Aspartylglucosaminuria: A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.Aspartylglucosylaminase: An enzyme that catalyzes the conversion of N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine and water to N-acetyl-beta-D-glucosaminylamine and L-aspartate. It acts only on asparagine-oligosaccharides containing one amino acid, i.e. the ASPARAGINE has free alpha-amino and alpha-carboxyl groups. (From Enzyme Nomenclature, 1992)Lysosomal Storage Diseases: Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.Acetylglucosamine: The N-acetyl derivative of glucosamine.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Metabolic Diseases: Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)Bone Marrow Transplantation: The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION.Urea Cycle Disorders, Inborn: Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.Transplantation, Homologous: Transplantation between individuals of the same species. Usually refers to genetically disparate individuals in contradistinction to isogeneic transplantation for genetically identical individuals.Mucopolysaccharidoses: Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.Graft vs Host Disease: The clinical entity characterized by anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the GRAFT VS HOST REACTION.Hematopoietic Stem Cell Transplantation: Transfer of HEMATOPOIETIC STEM CELLS from BONE MARROW or BLOOD between individuals within the same species (TRANSPLANTATION, HOMOLOGOUS) or transfer within the same individual (TRANSPLANTATION, AUTOLOGOUS). Hematopoietic stem cell transplantation has been used as an alternative to BONE MARROW TRANSPLANTATION in the treatment of a variety of neoplasms.Hematopoietic Stem Cells: Progenitor cells from which all blood cells derive.Stem Cell Transplantation: The transfer of STEM CELLS from one individual to another within the same species (TRANSPLANTATION, HOMOLOGOUS) or between species (XENOTRANSPLANTATION), or transfer within the same individual (TRANSPLANTATION, AUTOLOGOUS). The source and location of the stem cells determines their potency or pluripotency to differentiate into various cell types.Stem Cells: Relatively undifferentiated cells that retain the ability to divide and proliferate throughout postnatal life to provide progenitor cells that can differentiate into specialized cells.Transplantation Conditioning: Preparative treatment of transplant recipient with various conditioning regimens including radiation, immune sera, chemotherapy, and/or immunosuppressive agents, prior to transplantation. Transplantation conditioning is very common before bone marrow transplantation.Leukodystrophy, Globoid Cell: An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.Sphingolipidoses: A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.Osteopetrosis: Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).Leukodystrophy, Metachromatic: An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.alpha-Mannosidosis: An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.Adrenoleukodystrophy: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Telencephalon: The anterior subdivision of the embryonic PROSENCEPHALON or the corresponding part of the adult prosencephalon that includes the cerebrum and associated structures.Streptomycin: An antibiotic produced by the soil actinomycete Streptomyces griseus. It acts by inhibiting the initiation and elongation processes during protein synthesis.Culture Media: Any liquid or solid preparation made specifically for the growth, storage, or transport of microorganisms or other types of cells. The variety of media that exist allow for the culturing of specific microorganisms and cell types, such as differential media, selective media, test media, and defined media. Solid media consist of liquid media that have been solidified with an agent such as AGAR or GELATIN.Neuronal Ceroid-Lipofuscinoses: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.Succinate-Semialdehyde Dehydrogenase: An enzyme that plays a role in the GLUTAMATE and butanoate metabolism pathways by catalyzing the oxidation of succinate semialdehyde to SUCCINATE using NAD+ as a coenzyme. Deficiency of this enzyme, causes 4-hydroxybutyricaciduria, a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA).Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.Pemphigus: Group of chronic blistering diseases characterized histologically by ACANTHOLYSIS and blister formation within the EPIDERMIS.FinlandDiseases in Twins: Disorders affecting TWINS, one or both, at any age.Helsinki Declaration: An international agreement of the World Medical Association which offers guidelines for conducting experiments using human subjects. It was adopted in 1962 and revised by the 18th World Medical Assembly at Helsinki, Finland in 1964. Subsequent revisions were made in 1975, 1983, 1989, and 1996. (From Encyclopedia of Bioethics, rev ed, 1995)Bruxism: A disorder characterized by grinding and clenching of the teeth.Twins, Dizygotic: Two offspring from the same PREGNANCY. They are from two OVA, fertilized at about the same time by two SPERMATOZOA. Such twins are genetically distinct and can be of different sexes.Twins, Monozygotic: Two off-spring from the same PREGNANCY. They are from a single fertilized OVUM that split into two EMBRYOS. Such twins are usually genetically identical and of the same sex.Twins: Two individuals derived from two FETUSES that were fertilized at or about the same time, developed in the UTERUS simultaneously, and born to the same mother. Twins are either monozygotic (TWINS, MONOZYGOTIC) or dizygotic (TWINS, DIZYGOTIC).AmidohydrolasesPenicillin Amidase: An enzyme catalyzing the hydrolysis of penicillin to penicin and a carboxylic acid anion. EC 3.5.1.11.Stereoisomerism: The phenomenon whereby compounds whose molecules have the same number and kind of atoms and the same atomic arrangement, but differ in their spatial relationships. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 5th ed)Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Gaucher Disease: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.Glucosylceramidase: A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45.beta-Glucosidase: An exocellulase with specificity for a variety of beta-D-glycoside substrates. It catalyzes the hydrolysis of terminal non-reducing residues in beta-D-glucosides with release of GLUCOSE.Glucosidases: Enzymes that hydrolyze O-glucosyl-compounds. (Enzyme Nomenclature, 1992) EC 3.2.1.-.Lymphangioleiomyomatosis: A disease characterized by the progressive invasion of SMOOTH MUSCLE CELLS into the LYMPHATIC VESSELS, and the BLOOD VESSELS. The majority of the cases occur in the LUNGS of women of child-bearing age, eventually blocking the flow of air, blood, and lymph. The common symptom is shortness of breath (DYSPNEA).Radiology: A specialty concerned with the use of x-ray and other forms of radiant energy in the diagnosis and treatment of disease.Flatulence: Production or presence of gas in the gastrointestinal tract which may be expelled through the anus.Institutionalization: The caring for individuals in institutions and their adaptation to routines characteristic of the institutional environment, and/or their loss of adaptation to life outside the institution.Heartburn: Substernal pain or burning sensation, usually associated with regurgitation of gastric juice into the esophagus.Drug-Related Side Effects and Adverse Reactions: Disorders that result from the intended use of PHARMACEUTICAL PREPARATIONS. Included in this heading are a broad variety of chemically-induced adverse conditions due to toxicity, DRUG INTERACTIONS, and metabolic effects of pharmaceuticals.Diagnostic Techniques and Procedures: Methods, procedures, and tests performed to diagnose disease, disordered function, or disability.Abbreviations as Topic: Shortened forms of written words or phrases used for brevity.Digestive System: A group of organs stretching from the MOUTH to the ANUS, serving to breakdown foods, assimilate nutrients, and eliminate waste. In humans, the digestive system includes the GASTROINTESTINAL TRACT and the accessory glands (LIVER; BILIARY TRACT; PANCREAS).

Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. (1/19)

Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by deficiency of aspartylglucosaminidase (AGA). The main symptom is progressive mental retardation. A spectrum of different mutations has been reported in this disease, one missense mutation (Cys163Ser) being responsible for the majority of Finnish cases. We were able to examine 66 Finnish AGU patients for changes in the oral mucosa and 44 of these for changes in facial skin. Biopsy specimens of 16 oral lesions, 12 of them associated with the teeth, plus two facial lesions were studied histologically. Immunohistochemical staining for AGA was performed on 15 oral specimens. Skin was seborrhoeic in adolescent and adult patients, with erythema of the facial skin already common in childhood. Of 44 patients, nine (20%) had facial angiofibromas, tumours primarily occurring in association with tuberous sclerosis. Oedemic buccal mucosa (leucoedema) and gingival overgrowths were more frequent in AGU patients than in controls (p<0.001). Of 16 oral mucosal lesions studied histologically, 15 represented fibroepithelial or epithelial hyperplasias and were reactive in nature. Cytoplasmic vacuolisation was evident in four. Immunohistochemically, expression of AGA in AGU patients' mucosal lesions did not differ from that seen in corresponding lesions of normal subjects. Thus, the high frequency of mucosal overgrowth in AGU patients does not appear to be directly associated with lysosomal storage or with alterations in the level of AGA expression.  (+info)

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. (2/19)

A deficiency of functional aspartylglucosaminidase (AGA) causes a lysosomal storage disease, aspartylglucosaminuria (AGU). The recessively inherited disease is enriched in the Finnish population, where 98% of AGU alleles contain one founder mutation, AGU(Fin). Elsewhere in the world, we and others have described 18 different sporadic AGU mutations. Many of these are predicted to interfere with the complex intracellular maturation and processing of the AGA polypeptide. Proper initial folding of AGA in the endoplasmic reticulum (ER) is dependent on intramolecular disulfide bridge formation and dimerization of two precursor polypeptides. The subsequent activation of AGA occurs autocatalytically in the ER and the protein is transported via the Golgi to the lysosomal compartment using the mannose-6-phosphate receptor pathway. Here we use the three-dimensional structure of AGA to predict structural consequences of AGU mutations, including six novel mutations, and make an effort to characterize every known disease mutation by dissecting the effect of mutations on intracellular stability, maturation, transport and the activity of AGA. Most mutations are substitutions replacing the original amino acid with a bulkier residue. Mutations of the dimer interface prevent dimerization in the ER, whereas active site mutations not only destroy the activity but also affect maturation of the precursor. Depending on their effects on the AGA polypeptide the mutations can be categorized as mild, moderate or severe. These data contribute to the expanding body of knowledge pertaining to molecular pathogenesis of AGU.  (+info)

Human leukocyte glycosylasparaginase: cell-to-cell transfer and properties in correction of aspartylglycosaminuria. (3/19)

Aspartylglycosaminuria (AGU), a severe lysosomal storage disease, is caused by the deficiency of the lysosomal enzyme, glycosylasparaginase (GA), and accumulation of aspartylglucosamine (GlcNAc-Asn) in tissues. Here we show that human leukocyte glycosylasparaginase can correct the metabolic defect in Epstein-Barr virus (EBV)-transformed AGU lymphocytes rapidly and effectively by mannose-6-phosphate receptor-mediated endocytosis or by contact-mediated cell-to-cell transfer from normal EBV-transformed lymphocytes, and that 2-7% of normal activity is sufficient to correct the GlcNAc-Asn metabolism in the cells. Cell-to-cell contact is obligatory for the transfer of GA since normal transformed lymphocytes do not excrete GA into extracellular medium. The combined evidence indicates that cell-to-cell transfer of GA plays a main role in enzyme replacement therapy of AGU by normal lymphocytes.  (+info)

Characterization of two glycoasparagines isolated from the urine of patients with aspartylglycosylaminuria (AGU). (4/19)

Two major glycoasparagines (2-acetamido-N-(4'-L-aspartyl)-2-deoxy-beta-D-glycosylamines) were isolated from the urine of patients with aspartylglycosylaminuria (AGU). They were composed of equimolar amounts of sialic acid, galactose, glucosamine, and aspartic acid. They were isomeric with respect to the position of sialic acid attachment, since they produced the same glycoasparagine on incubation with the neuraminidase from Clostridium perfringens. The structure of the resulting sialic acid-free glycoasparagine was determined as beta-Gal-(1 leads to 4)-beta-GlcNAc-Asn based on the following findings. It produced galactose on incubation with beta-galactosidase, and N-acetyllactosamine and aspartic acid on incubation with 4-L-aspartylglycosylamine amindo hydrolase.  (+info)

Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing. (5/19)

We present a new method for quantification of mRNA, in which the limitations of the current quantitative PCR methods can be overcome. A known amount of a synthetic RNA standard differing from the mRNA to be quantified by a single nucleotide is reverse-transcribed and amplified together with the mRNA template using a biotinylated primer. The biotinylated PCR product is immobilized on a streptavidin-coated solid support and denatured. The ratio between the two amplified sequences is determined by separate "mini-sequencing" reactions, in which a detection step primer annealing immediately adjacent to the site of the variable nucleotide is elongated by a single labeled dNTP complementary to the nucleotide at the variable site. The ratio between the incorporated labels accurately determines the ratio between the two sequences in the original RNA sample. We applied this method to quantify the mRNA of human aspartylglucosaminidase (AGA) in tissues and cultured cells. AGA is a lysosomal enzyme participating in the degradation of glycoproteins. A mutation in the AGA gene abolishes the enzyme activity and leads to aspartylglucosaminuria (AGU), a recessively inherited metabolic disorder. The mRNA quantification revealed that the normal and mutant genes are expressed at similar levels in kidney, liver, and cultured fibroblast, whereas the amount of AGA mRNA in normal placenta and brain is significantly higher than that found in the corresponding samples from AGU patients. The method presented here is generally applicable for PCR-based quantification of rare mRNAs and DNA as well.  (+info)

Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts. (6/19)

Aspartylglucosaminidase (AGA, EC 3.5.1.26) is an essential enzyme in the degradation of asparagine-linked glycoproteins. In man, deficient activity of this enzyme leads to aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease. Here we used affinity-purified polyclonal antibodies against the native AGA and its denatured subunits to establish the molecular structure and intracellular location of the enzyme in normal and AGU fibroblasts. Inactivation of the enzyme was found to coincide with the dissociation of the heterodimeric enzyme complex into subunits. Although the subunits were not linked by covalent forces, the intrapolypeptide disulphide bridges were found to be essential for the normal function of AGA. AGA was localized into lysosomes in control fibroblasts by both immunofluorescence microscopy and immuno-electron microscopy, whereas in AGU cells the location of antigen was different, suggesting that, owing to the mutation, a missing disulphide bridge, most of the enzyme molecules get retarded in the cis-Golgi region and most probably face intracellular degradation.  (+info)

Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy. (7/19)

Aspartylglycosaminuria (AGU) is caused by deficient enzymatic activity of glycosylasparaginase (GA). The disease is characterized by accumulation of aspartylglucosamine (GlcNAc-Asn) and other glycoasparagines in tissues and body fluids of AGU patients and in an AGU mouse model. In the current study, we characterized a glycoasparagine carrying the tetrasaccharide moiety of alpha-D-Man-(1-->6)-beta-D-Man-(1-->4)-beta-D-GlcNAc-(1-->4)-beta-D-GlcNAc-(1-->N )-Asn (Man2GlcNAc2-Asn) in urine of an AGU patient and also in the tissues of the AGU mouse model. Quantitative analysis demonstrated a massive accumulation of the compound especially in nonneuronal tissues of the AGU mice, in which the levels of Man2GlcNAc2-Asn were typically 30-87% of those of GlcNAc-Asn. The highest level of Man2GlcNAc2-Asn was found in the liver, spleen, and heart tissues of the AGU mice, the respective amounts being 87%, 76%, and 57% of the GlcNAc-Asn levels. In the brain tissue of AGU mice the Man2GlcNAc2-Asn storage was only 9% of that of GlcNAc-Asn. In contrast to GlcNAc-Asn, the storage of Man2GlcNAc2-Asn markedly increased in the liver and spleen tissues of AGU mice as they grew older. Enzyme replacement therapy with glycosylasparaginase for 3.5 weeks reduced the amount of Man2GlcNAc2-Asn by 66-97% in nonneuronal tissues, but only by 13% in the brain tissue of the AGU mice. In conclusion, there is evidence for a role for storage of glycoasparagines other than aspartylglucosamine in the pathogenesis of AGU, and this possibility should be taken into consideration in the treatment of the disease.  (+info)

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. (8/19)

We have isolated a 2.1 kb cDNA which encodes human aspartylglucosaminidase (AGA, E.C. 3.5.1.26). The activity of this lysosomal enzyme is deficient in aspartylglucosaminuria (AGU), a recessively inherited lysosomal accumulation disease resulting in severe mental retardation. The polypeptide chain deduced from the AGA cDNA consists of 346 amino acids, has two potential N-glycosylation sites and 11 cysteine residues. Transient expression of this cDNA in COS-1 cells resulted in increased expression of immunoprecipitable AGA protein. Direct sequencing of amplified AGA cDNA from an AGU patient revealed a G----C transition resulting in the substitution of cysteine 163 with serine. This mutation was subsequently found in all the 20 analyzed Finnish AGU patients, in the heterozygous form in all 53 carriers and in none of 67 control individuals, suggesting that it represents the major AGU causing mutation enriched in this isolated population. Since the mutation produces a change in the predicted flexibility of the AGA polypeptide chain and removes an intramolecular S-S bridge, it most probably explains the deficient enzyme activity found in cells and tissues of AGU patients.  (+info)

Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues. The disease is caused by a defect in an enzyme known as aspartylglucosaminidase. This enzyme plays a significant role in our bodies because it aids in breaking down certain sugars (for example, oligosaccharides) that are attached to specific proteins (for example, glycoproteins). Aspartylglucosaminuria itself is characterized as a lysosomal disease because it does deal with inadequate activity in an enzymes function. Aspartylglucosaminidase functions to break down glycoproteins. These proteins are most abundant in the tissues of the body and in the surfaces of major organs, such as the liver, spleen, thyroid and nerves. When glycoproteins are not broken down, aspartylglucosaminidase backs up in the lysosomes along with other substances. This backup causes progressive damage to the tissues and organs. At birth, there is no sign ...
Rare Diseases Research Group. The main research interest of our group are the molecular mechanisms of rare diseases and development of personalized therapies for such diseases. The spectrum of diseases in our research focus include lysosomal storage disorders (aspartylglucosaminuria, neuronal ceroid lipofuscinoses), disorders of neurotransmitter metabolism (SSADH deficiency), and autoimmune diseases (Pemphigus). In addition, the molecular mechanisms of cancers, especially those dependent on MAP kinase signaling, are addressed in our group. Aspartylglucosaminuria (R. Tikkanen and A. Banning). Aspartylglucosaminuria (AGU) is a rare genetic disorder caused by mutations in the gene encoding for the lysosomal enzyme aspartylglucosaminidase (AGA). AGU patients are born seemingly normal, but within the first years of life, they start lagging behind in their development and become increasingly handicapped and intellectually disabled by early adulthood. Currently, no approved therapies are available for ...
Aspartylglycosaminuria is a classical lysosomal storage disorder caused by defective activity of the lysosomal hydrolase aspartylglucosaminidase. First presentation is usually between two and four years of age, such young patients often suffering from prolonged upper respiratory infections. Developmental of both motor and cognitive skills lags steadily behind that of normal children, and at the puberty AGU patients are mildly or moderately mentally retarded. With increasing age overall performance further declines; the life span of severely retarded individuals is 45 to 50 years.
The Mammalian Phenotype (MP) Ontology is a community effort to provide standard terms for annotating phenotypic data. You can use this browser to view terms, definitions, and term relationships in a hierarchical display. Links to summary annotated phenotype data at MGI are provided in Term Detail reports.
This urinary oligosaccharide and glycan screening is using MALDI-TOF/TOF technology, which provides a better sensitivity and specificity than the traditional TLC method. Different from the traditional TLC method, this method successfully detects subtle excretions of abnormal oligosaccharides in mucolipidosis II and III ( I cell disease) as well as other oligosaccharidoses. Conditions screened for are the following: Fucosidosis, Alpha-mannosidosis, Beta-mannosidosis, Sialidosis, Aspartylglucosaminuria, Schindler disease, Kanzaki disease, Mucolipidosis II and III ( I cell disease), Galactosialidosis, CDGIIb, Pompe disease, and Tay Sachs / Sandhoff (GM2).. ...
Issuu is a digital publishing platform that makes it simple to publish magazines, catalogs, newspapers, books, and more online. Easily share your publications and get them in front of Issuus millions of monthly readers. Title: AGU Academic Portfolio 2017, Author: AGU International, Name: AGU Academic Portfolio 2017, Length: 92 pages, Page: 1, Published: 2017-06-06
ABSTRACT. The AS/AGU rat has a recessive single point mutation in the gene coding for the gamma isoform of protein kinase C (PKC-γ) resulting in a failure to release dopamine in the striatum and impaired movement including a staggering gait, difficulty in initiating movement and a slight whole body tremor. This study examined the levels tyrosine hydroxylase, ubiquitin and parkin in individual SNC cell bodies. There was no evidence of a reduction in tyrosine hydroxylase levels although levels of ubiquitin and parkin were elevated in the cytoplasm. The findings support the hypothesis that the initial bar to dopamine availability in the striatum is reduced release, with substantia nigra cell death being a later phenomenon. 1. INTRODUCTION. The AS/AGU rat originated as a recessive mutation (agu) in a closed colony of Albino Swiss (AS) rats. The mutation is in the gene coding for the gamma isoform of protein kinase C [1]. The rats are characterized by a movement impairments including rigidity of the ...
Ayako Nakanishi, Alex J. Smith, Seiichi Miura, Tetsuro Tsuru, Shuichi Kodaira, Koichiro Obana, Narumi Takahashi, Phil R. Cummins, Yoshiyuki ...
Y. Harada, D. L. Mitchell, J. S. Halekas, J. P. McFadden, C. Mazelle, J. E. P. Connerney, J. Espley, D. A. Brain, D. E. Larson, R. J. Lillis, T. Hara, R. Livi, G. A. DiBraccio, S. Ruhunusiri, B. M. ...
I was particularly looking forward to two AGU keynote talks on Monday - John Holdren (Science and technology advisor to the President) and Julia Slingo (Chief Scientist at the UK Met Office). Holdrens talk was a waste of time, while Slingos was fabulous. I might post later about what I disliked about Holdrens talk
We report an original technique for femoral access integrating angiographic, guidewire, and ultrasound (AGU) guidance, working together to obtain the best femoral artery stick.
Apply to AGU! 100% English Undergraduate and Graduate programs. Third (3rd) Generation University. Top Turkish State University. Great incentives-scholarship
This is the title of a current op ed in EOS drawn to my attention by Leif Svalggard. The policies advocated in the op ed are obviously ones that I endorse. AGU actually does have data policies that, on paper, would deal with many of the disputes that Ive had with paleoclimate authors. From time…
Im leaving tomorrow for San Francisco and will be presenting at the 8 am Union session 11-B on Monday morning. It takes me a long time to prepare short presentations. When I look at them, I wonder why it took so long. Al Gore is heading an AGU session on Thursday. If the convention center…
Gentaur molecular products has all kinds of products like :search , Expede \ Amintra Glutathione Superflow _ 5ml \ AGU0005 for more molecular products just contact us
Cell culture. Primary neuronal cell cultures were prepared aseptically from telencephalon of 14- to 16-d-old AGU mouse (Jalanko et al., 1998) embryos. Meningeal membranes were removed in an ice-cold solution of PBS-20 mm glucose, and the brain tissue was gently triturated with a 5 ml pipette in PBS-20 mm glucose containing trypsin-EDTA (0.1/0.04%) and DNase I (10 μg/ml). The tissue was then allowed to dissociate at 37°C for 15 min. Trypsin was inactivated by 10% fetal calf serum (FCS) (Life Technologies, Gaithersburg, MD), and the dispersed sample was centrifuged at 800 rpm for 2 min. The cells were resuspended with culture medium CM1 [CM1: DMEM (Life Technologies) supplemented with 25 μm l-glutamic acid, 0.5 mm l-glutamine, penicillin/streptomycin (50 U/ml/50 mg/ml), 1× B27 (Life Technologies), and 10 mmHEPES, pH 7.4,] and two hemispheres were plated on poly-d-lysine-coated 5 cm Petri dishes (with or without coverslips). After 2-4 d of incubation, the culture medium was replaced with new ...
Level 7 of the Metro Toronto Convention Centre is situated above Level 8, and Level 6 is higher still. Once you find your way around, its seems the perfect place to study atmospheric inversions and other climatological phenomena. Thats what is happening at the centre this week during the Joint Assembly of the American and Canadian Geophysical Unions, along with a half-dozen other Earth and space science societies. Read more. ...
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Encoded by the codons UCU, UCC, UCA, UCG, AGU and AGC) is a ɑ-amino acid that is used in the biosynthesis of proteins. It contains an α-amino group (which is in the protonated −NH+3 form under biological conditions), a carboxyl group (which is in the deprotonated -COO−form in physiological conditions), and a side chain consisting of a hydroxymethyl group (see hydroxyl), classifying it as a polar amino acid ...
otitis - MedHelps otitis Center for Information, Symptoms, Resources, Treatments and Tools for otitis. Find otitis information, treatments for otitis and otitis symptoms.
Aspartylglucosaminidase (AGA) belongs to the N-terminal nucleophile (Ntn) hydrolase superfamily characterized by an N-terminal nucleophile as the catalytic residue. Three-dimensional structures of the Ntn hydrolases reveal a common folding pattern and equivalent stereochemistry at the active site. The activation of the precursor polypeptide occurs autocatalytically, and for some amidohydrolases of prokaryotes, the precursor structure is known and activation mechanisms are suggested. In humans, the deficient AGA activity results in a lysosomal storage disease, aspartylglucosaminuria (AGU) resulting in progressive neurodegeneration. Most of the disease-causing mutations lead to defective molecular maturation of AGA, and, to understand the structure-function relationship better, in the present study, we have analysed the effects of targeted amino acid substitutions on the activation process of human AGA. We have evaluated the effect of the previously published mutations and, in addition, nine novel ...
On behalf of AGU leaders and staff, we give our heartfelt congratulations to all of this years Section and Focus Group awardees and named lecturers.. Listed below are the scientists, in various stages of their careers, who have been selected by AGU sections and focus groups to receive awards in 2015. Also listed are those individuals chosen to present lectures under the annual Bowie Lecture Series as well as the Section and Focus Group Named Lecture Series. The Bowie Lecture was inaugurated in 1989 to commemorate the fiftieth presentation of the William Bowie Medal, which is named for AGUs first president and is the highest honor given by AGU. The Bowie lecturers are denoted by asterisks. Named lecturers are designated by sections and focus groups to honor distinguished scientists in their respective fields of science.. ...
Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L-Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine ...
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Therefore it only takes 2 bits to unambiguously identify those 4 options. Two bits is also nice because it does not have any excess. I.e. there is no repeatability (like how UCU, UCA, UCG, UCC, AGU, and AGC all stand for serine in translating mRNA -, amino acids). So, 2 bits per letter really is the shortest possible sequence that we can describe these two molecules... without compression. But since the tension is already so thick... nevermind ...
Tiny bubbles full of brine may be creating a storehouse of nutrients needed by microorganisms living at the seafloor and, possibly, deep within the earths crust. A UW oceanographer presents evidence at this weeks AGU meeting that a significant reservoir of methane may be found in rock beneath the seafloor
Apply to AGU! 100% English Undergraduate and Graduate programs. Third (3rd) Generation University. Top Turkish State University. Great incentives-scholarship
Apply to AGU! 100% English Undergraduate and Graduate programs. Third (3rd) Generation University. Top Turkish State University. Great incentives-scholarship
Plank, T., Ferriss, E., Lloyd, A.S., and Hauri, E. 2014, The fidelity of xenoliths in recording mantle water concentrations, Abstract #4466 submitted to 2014 Fall Meeting, AGU, San Fransisco, Dec.. Ferriss, E., Plank, T., and Walker, D. 2013, The whole-block method and water diffusion in olivine, Abstract MR41A-2352 presented 2013 Fall Meeting, AGU, San Fransisco, Dec. (poster). Ferriss, E., Plank, T., and Walker, D. 2012, Diffusion of water in clinopyroxene, Abstract V51A-2751 presented 2012 Fall Meeting, AGU, San Fransisco, Dec. (poster). Ferriss, E. D. A., Helean, K. B., Bryan, C. R., Brady, P. V., and Ewing, R. C. 2008, UO2 corrosion in an iron waste package, MRS Proceedings, 1124. Anderson, B. E., Helean, K. B., Bryan, C. R., Brady, P. V., and Ewing, R. C. 2007, Waste Package Corrosion Studies Using Small Mockup Experiments, MRS Proceedings, 1107. Anderson, B. E., Becker, U., Helean, K. B., Ewing , R.C. 2006, Perrhenate and on Iron and Sulfur-Bearing Compounds, MRS Proceedings, 985. Lock, ...
Miss Nai-chen Chen(left) , a master student at NTUs Institute of Geosciences, discovered the special carbon cycles in the seabed sediments. Her thesis was presented in the 2008 Fall Meeting of the American Geophysics Union and won the Outstanding Student Paper Award.. Miss Chen received notification a couple days ago that her thesis had won The Outstanding Student Paper Award from the American Geophysics Union. This piece of news not only spelled person honor for her, but also glorified NTU as well. The American Geophysics Union holds its Fall Meeting every year in December in San Francisco, to which thousands of scholars from all over the world regularly attend to present their scholarly findings. The Fall Meeting of the AGU is an important event of the international geophysical community. In order to encourage young scholars to engage in research, the AGU invites several senior researchers to form a panel of judges, who are responsible for reviewing the papers submitted by students from all ...
The region upstream of the earths bow shock has been known for more than a decade to be rich in both wave and particle phenomena. This region of geospace has proven to be a natural laboratory for the study of particle acceleration mechanisms, wave-particle interactions, and collisionless-shock-associated phenomena. Interest in upstream waves and particles has recently experienced an increase in popularity coincident with the arrival of data from new and sophisticated instruments carried by the three International Sun-Earth Explorer (Isee) spacecraft.. The upstream ion population is now known to consist of at least two distinct components, the reflected and diffuse components. The reflected component is basically an ion beam that is moving upstream, away from the bow shock, with a typical speed that is approximately 2-3 times the solar wind speed. The diffuse component is characterized by a much broader pitch angle distribution (roughly isotropic in the spacecraft frame) and an energy ...
NSFs mission is to advance the progress of science, a mission accomplished by funding proposals for research and education made by scientists, engineers, and educators from across the country.
The AGU Education department is getting ready for another Exploration Station in San Francisco as part of the annual Fall Meeting. Registration for presenters is now open; we invite members to consider becoming a part of this event. ...
Mucopolysaccharidosis Disorders Hurler Syndrome Hunter Syndrome Maroteaux Lamy Syndrome Sly Syndrome Alpha-Mannosidosis Fucosidosis Aspartylglucosaminuria Glycoprotein Metabolic Disorders Sphingolipidoses Recessive Leukodystrophies Globoid Cell Leukodystrophy Metachromatic Leukodystrophy Niemann-Pick B Niemann-Pick C Subtype 2 Sphingomyelin Deficiency Peroxisomal Disorders Adrenoleukodystrophy With Cerebral Involvement Zellweger Syndrome Neonatal Adrenoleukodystrophy Infantile Refsum Disease Acyl-CoA Oxidase Deficiency D-Bifunctional Enzyme Deficiency Multifunctional Enzyme Deficiency Alpha-methylacyl-CoA Racmase Deficiency Mitochondrial Neurogastrointestingal Encephalopathy Severe Osteopetrosis Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation) Inherited Metabolic Disorders ...
Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins. Requires that the glycosylated asparagine moiety is not substituted on its N-(R1) and C- (R2) terminus.
Aguán River, river in northern Honduras, 150 mi (240 km) in length. After rising in the central highlands west of Yoro, it descends to the northeast between the Cerros de Cangreja and the Sierra de la Esperanza to the coastal lowlands, on which it forms a maze of channels and empties into the
Certificate of outstanding contribution in reviewing" for Stochastic Environmental Research and Risk Assessment in recognition of the contributions made to ensure the quality of the journal. Awarded in May 2018.. - "2015 Editors Citation for Excellence in Refereeing" for Water Resources Research. Hanson, B., and R. van der Hilst (2016), Recognizing 2015 reviewers for the American Geophysical Union, Eos, 97, doi:10.1029/2016EO050325. Published on 26 May 2016.. - The paper Lombardo F., Volpi E., Koutsoyiannis D., Serinaldi F. (2017) "A theoretically consistent stochastic cascade for temporal disaggregation of intermittent rainfall", Water Resources Research doi:10.1002/2017WR020529 was selected by the Editors as an "AGU Journal Highlight". The paper is highlighted in section "AGU Research Spotlight" of the AGU newspaper EOS: Witman, S. (2017), Shedding light on intermittent rainfall, Eos, 98, https://doi.org/10.1029/2017EO075509, 14 June 2017.. - The paper Serinaldi F. (2011) "Analytical ...
2012 Ocean Sciences Meeting, 20-24 February 2012, Salt Lake City, Utah, USA. Sponsored by the The Oceanogrpahy Society, the American Society of Limnology and Oceanography, and the American Geophysical Union.
2012 Ocean Sciences Meeting, 20-24 February 2012, Salt Lake City, Utah, USA. Sponsored by the The Oceanogrpahy Society, the American Society of Limnology and Oceanography, and the American Geophysical Union.
Its got some lovely structure, as you can see! However, today, Id like to ignore the folds (!) and focus instead on the original depositional setting. The Tonoloway was deposited in the passive margin setting between the late Ordovician Taconian Orogeny (lots of clastics shed into this basin) and the Devonian Acadian Orogeny (lots more clastics shed into this basin). There are no significant clastics in the Tonoloway: its instead composed of crystallized seawater! It consists of carbonate rock (limestone and dolostone) that shows numerous indications of shallow water deposition under arid conditions.. Much of the formation looks like this: Super thin laminations of limestone and dolostone ...
I was chatting with a fellow from AVO and he called the simultaneous eruptions of Kasatochi, Cleveland and Okmok a once in a millennia event. So, enjoy it! He also mentioned that the Kasatochi eruption released the most sulfur dioxide into the atmosphere since the 1991 Pinatubo eruption ...
Douch, K., B. Foulon, B. Christophe, M. Diament, I. Panet and G. Pajot-M tivier (2013) A new planar electrostatic gravity gradiometer for airborne surveys, Presented at SEG meeting, Houston, USA, September 2013. Douch, K., I. Panet, B. Foulon, B. Christophe, M. Diament and G. Pajot-M tivier (2013) High Resolution Mapping of the Gravity Field in Coastal Areas : a New Airborne Planar Gradiometer Concept, Presented at AGU Fall Meeting, San Francisco, USA, December 2013. Douch, K., B. Foulon, B. Christophe, G. Pajot-M tivier, M. Diament and I. Panet (2013) A new planar electrostatic gravity gradiometer for airborne surveys, SEG Technical Program Expanded Abstracts 2013, doi:10.1190/segam2013-1122.1. Foulon, B., V. Lebat, B. Christophe, K. Douch and I. Panet (2013) Improved configuration of the planar electrostatic gradiometer GREMLIT for airborne geodesy, Presented at AGU Fall Meeting, San Francisco, USA, December 2013. Hayn, M., M. Holschneider and I. Panet (2013) Adaptative gravity modelling from ...
UUU 21.9( 25) UCU 19.3( 22) UAU 21.9( 25) UGU 33.4( 38) UUC 20.2( 23) UCC 4.4( 5) UAC 11.4( 13) UGC 21.9( 25) UUA 21.9( 25) UCA 33.4( 38) UAA 0.9( 1) UGA 0.0( 0) UUG 15.8( 18) UCG 0.9( 1) UAG 0.0( 0) UGG 14.9( 17) CUU 14.0( 16) CCU 17.6( 20) CAU 25.5( 29) CGU 2.6( 3) CUC 9.7( 11) CCC 2.6( 3) CAC 5.3( 6) CGC 0.9( 1) CUA 9.7( 11) CCA 20.2( 23) CAA 23.7( 27) CGA 0.9( 1) CUG 14.9( 17) CCG 3.5( 4) CAG 12.3( 14) CGG 1.8( 2) AUU 26.3( 30) ACU 31.6( 36) AAU 19.3( 22) AGU 13.2( 15) AUC 14.0( 16) ACC 14.0( 16) AAC 8.8( 10) AGC 7.9( 9) AUA 16.7( 19) ACA 50.9( 58) AAA 30.7( 35) AGA 11.4( 13) AUG 22.8( 26) ACG 1.8( 2) AAG 33.4( 38) AGG 9.7( 11) GUU 24.6( 28) GCU 9.7( 11) GAU 30.7( 35) GGU 21.9( 25) GUC 15.8( 18) GCC 5.3( 6) GAC 9.7( 11) GGC 10.5( 12) GUA 15.8( 18) GCA 29.9( 34) GAA 22.8( 26) GGA 19.3( 22) GUG 15.8( 18) GCG 0.0( 0) GAG 28.1( 32) GGG 20.2( 23 ...
UUU 20.8( 33) UCU 29.7( 47) UAU 7.6( 12) UGU 6.3( 10) UUC 11.4( 18) UCC 12.0( 19) UAC 12.6( 20) UGC 2.5( 4) UUA 2.5( 4) UCA 13.9( 22) UAA 0.0( 0) UGA 0.0( 0) UUG 18.3( 29) UCG 5.1( 8) UAG 1.3( 2) UGG 20.8( 33) CUU 20.8( 33) CCU 18.9( 30) CAU 12.6( 20) CGU 8.2( 13) CUC 12.6( 20) CCC 8.8( 14) CAC 6.3( 10) CGC 10.1( 16) CUA 8.2( 13) CCA 27.8( 44) CAA 31.6( 50) CGA 2.5( 4) CUG 10.7( 17) CCG 2.5( 4) CAG 13.9( 22) CGG 2.5( 4) AUU 15.8( 25) ACU 31.6( 50) AAU 40.4( 64) AGU 12.0( 19) AUC 5.1( 8) ACC 21.5( 34) AAC 29.0( 46) AGC 15.2( 24) AUA 12.6( 20) ACA 46.7( 74) AAA 29.0( 46) AGA 16.4( 26) AUG 25.3( 40) ACG 1.3( 2) AAG 16.4( 26) AGG 11.4( 18) GUU 25.3( 40) GCU 22.7( 36) GAU 21.5( 34) GGU 17.7( 28) GUC 20.8( 33) GCC 7.6( 12) GAC 26.5( 42) GGC 28.4( 45) GUA 10.1( 16) GCA 26.5( 42) GAA 17.7( 28) GGA 16.4( 26) GUG 17.7( 28) GCG 11.4( 18) GAG 24.0( 38) GGG 13.3( 21 ...
For sustained pioneering work on aerosols, GFDL Scientist Paul Ginoux is a recipient of American Geophysical Unions (AGU) Atmospheric Sciences Ascent Award for 2013.
Here is the link to the events website: http://ja.agu.org/2015/.. Following is a detailed list of lab members activities:. Dr. Saman Razavi will be convening a session:. ...
She inherited Prospect Estate from her mother Eliza Jane Dennis, who had in turn inherited from her father Francis Dennis when aged 13. Co-claimant with her siblings Capt James Massy Dawson (q.v.), Rev. John Massy Dawson (q.v.), Isabella Pallmer Massy Dawson (q.v.), Charles Nicholas Pallmer Massy Dawson (q.v.), Francis Dennis Massey[sic] Dawson (q.v.) and Robert Bolton Massy Dawson (q.v.), her brother-in-law Robert Mont[agu] Poore (q.v.) and her aunt Maria Francis Pallmer (q.v.). ...
email protected] Included in this announcement: 1. Research from the AGU Fall Meeting: Accumulating sediment in Mississippi River threatens course change, water supply 2. Todays press events 3. Noteworthy sessions happening today 4. Potentially newsworthy presentations 5. Press networking events happening today 6. Online media resources Please visit the 2017 Fall Meeting Media Center to view previous media advisories and press releases that include important information about press registration, badge pickup, press conferences, quiet rooms, searching the scientific program, and AGU On-Demand.. 1. Research from the AGU Fall Meeting: Accumulating sediment in Mississippi River threatens course change, water supply. NEW ORLEANS - Accumulating sediment within the lower Mississippi River could, when coupled with a major flood, cause the river to abandon its current course, potentially ruining the drinking water source for roughly 1.5 million people, according to new research presented here ...
Spend the summer as a journalist or a year on Capitol Hill! AGU gives you the opportunity to do either as a Mass Media Fellow or Congressional Science Fellow. Learn more about AGUs fellowship programs - and how to apply - at this complimentary luncheon. Congressional Fellows will discuss their experiences and how they helped influence national science, energy, and environmental policy. Mass Media Fellows will share stories about reporting for major television, newspaper, and radio news outlets. Lunch will be served. Space is limited. No advance registration required.. ...
Logging the Onset of The Bottleneck Years This weekly posting is brought to you courtesy of H. E. Taylor. Happy reading, I hope you enjoy this weeks Global Warming news roundup skip to bottom Another week of Climate Instability News Information Overload is Pattern RecognitionNovember 21, 2010 Chuckles, COP15, COP16+, GGCS, Kiribati, CSRRT, AGU, Pakistan…
Last full day of #AGU17 exhibition! Dont miss out on your chance to explore our books and journals at booth 1227,… https://t.co/4DQJ1B6uSl ...
A dis-tinção entre se-gu-rado es-pe-cial e pro-dutor in-te-grado é fun-da-mental para a re-de-fi-nição dessas alí-quotas e também para ca-rac-te-ri-zação de aci-dentes e do-enças do tra-balho e para o ajui-za-mento, pela AGU, das cor-res-pon-dentes ações de re-gresso: os cam-po-neses sub-me-tidos ao re-gime de in-te-gração re-cebem pa-cotes de in-sumos (di-re-ta-mente ou me-di-ante es-pe-ci-fi-ca-ções, ou mesmo me-di-ante im-po-sição de pa-drões e prazos que só são atin-gí-veis me-di-ante aqueles mé-todos e pro-dutos) dos mo-no-pó-lios agroin-dus-triais e não têm como re-chaçá-los. Esses in-sumos (agro-tó-xicos, por exemplo), que são ma-ni-pu-lados in-clu-sive por cri-anças, causam câncer, sui-cí-dios etc., que não são con-ta-bi-li-zados como aci-dente la-boral e, quando são, não acar-retam ônus às em-presas porque os agri-cul-tores não são for-mal-mente em-pre-gados ...
Dr. Hanwant Singh, an AGU fellow, leads a group of atmospheric scientists at NASA Ames Research Center and is the Executive Editor of the international journal Atmospheric Environment.
Dr. Hanwant Singh, an AGU fellow, leads a group of atmospheric scientists at NASA Ames Research Center and is the Executive Editor of the international journal Atmospheric Environment.
Theres always a feeling of tristesse when they start pulling down the circus tents and loading the last of the elephants into their trailers. The last day of AGU feels a bit like that. AGU puts one much in mind of those medieval faires, or the Jokkmokk Vintermarknad, where people gathered (and still gather, in the latter case) from time to time to exchange goods and the latest news. Our own faire is a marketplace of ideas, though you can buy some nifty stuff here,too. Like a medieval faire, this is a social event as well - a time of feasting and revels, of renewing old friendships, and of making new ones. Happily, any brawls we have here are rather genteel ones.. But, its not over til its over especially in view of the fact that I was chairing (and giving the last talk at) the very last session of the whole shooting match - on evolution of extrasolar Large Earths. A dedicated group of extrasolar types stayed around for the fun. Closer to home, though, I dropped in on the session on Pliocene ...
An edited version of this paper was published by AGU. Copyright 1993 American Geophysical Union. Stocker, A. J., F. Honary, T. R. Robinson, T. B. Jones, and P. Stubbe (1993), Anomalous absorption during artificial modification at harmonics of the electron gyrofrequency, J. Geophys. Res., 98(A8), 13627-13634, doi: 10.1029/93JA00878 ...
INRA Constellation of Experimental Watersheds: Cyberinfrastructure to Support Publication of Water Resources Data, J. S. Horsburgh, David G. Tarboton, K. Schreuders, D. P. Ames, J. P. McNamara, L. A. Marshall, B. L. McGlynn, D. L. Kane, A. Tidwell, J. Boll, N. W. Hinman, and M. E. Barber; Eos. Trans. AGU. ...
TABLE-US-00007 TABLE 2 Predicted binding of VIROMIRs (lower sequence) targeting RSV and IL-8 (upper sequence). VIROMIR Target binding RSV (RNA Hybrid) Target Binding IL-8 (RNA Hybrid) RS001 (SEQ ID NO: 149) (SEQ ID NO: 163) target 5 A G A 3 target 5 C AU C 3 A CCCA AUUAUCAAAGAA CACCCCAA UUAUCAAAGAA U GGGU UAAUAGUUUCUU GUGGGGUU AAUAGUUUCUU 3 G G UA 5 3 AU 5 (SEQ ID NO: 8) (SEQ ID NO: 8) RS002 (SEQ ID NO: 150) (SEQ ID NO: 164) target 5 U ACAA AAAG C 3 target 5 C AA G 3 AGGCC AUUA GAACUGAGA AAAUUUAUCA GAACUGAGA UUUGG UAGU CUUGACUCU UUUGGAUAGU CUUGACUCU 3 A AA 5 3 AA 5 (SEQ ID NO: 9) (SEQ ID NO: 9) RS003 (SEQ ID NO: 151) (SEQ ID NO: 165) target 5 C UAA A 3 target 5 A UC C 3 AACCC UCA UGUGGUAUC AAAUUCAUUC UGUGGUAUC UUGGG AGU ACACCAUAG UUUGGGUAAG ACACCAUAG 3 U UA C 5 3 UC 5 (SEQ ID NO: 10) (SEQ ID NO: 10) RS004 (SEQ ID NO: 152) (SEQ ID NO: 166) target 5 A C 3 target 5 U G A G 3 CAGAUGCAACCAA AGGGUU C CAGAUGCAAU CAA GUCUACGUUGGUU UCCCAA G GUCUACGUUG GUU 3 UCCCAAGC 5 3 C ...
[tabs][tab title=Ingredients]Plant Enzyme Blend 383 mg Amylase (3,500 DU) Glucoamylase (5.25 AGU) Lipase (350 FCCLU) Protease I pH 3.0 (15 S APU) Protease II pH 4.5 (20,000 HUT) Protease III pH 6.0 (35,000 HUT ) Cellulase (200 CU) CereCalaseT M (250 MU) Alpha-Galactosidase (75 GaIU) Lactase (150 ALU) Invertase (150
Image by Matt Gibson on flickr. - Yesterday Earth arrived at a point in its orbit around the sun where the north end of the planet has its greatest tilt away from the sun even though were closer now than any other time of year. Why was it so warm into late fall? Lag time of heat loss from the planets surface: objects have whats called thermal mass - the ability of a material to store heat; a materials resistance to change in temperature as heat is added or removed. Water has a relatively high thermal mass.. - Three extraordinary new discoveries announced by NASA Curiosity at Mars researchers at AGU last week:. ...
Materials for investigation were collected during research cruises in October-November in the coastal areas of western and northern Norway, and in December 1978 - May 1979 in the northern North Sea and south of the Faroes (Table l), During the autumn of 1978 T.sagittatus mainly migrated to the Andfjord area in North Norway where a fishery took place in October-December. Off northern Norway the mean mantle length of the different samples was 33-34 cm, off western Norway 27-30 cm. In the northern North Sea most squid taken during December-April measured 18-28 cm, a few 13-17 cm and 30-36 cm. Those taken in May had a mean length of 30 cm. The total edible weight was on an average 74% of the total weight (mantle 50%, arms and tentacles, 24%) . Off northern Norway the liver weight constituted 12,6% (6-16) of the total weight, off western Norway 10% (4-13), south of the Faroes, 7.1% (3-13) . Males are easily distinguished macroscopically by the condition of the skin, becoming ragged and slimy very ...
My apologies that Ive been very quiet here on Georneys recently. My travel and work schedule were extremely hectic during the past month… plus I was working on a couple of scientific papers related to my PhD thesis research. However, life is a bit calmer now, so hopefully Ill catch up on some blogging soon! I want to share some more pictures from my trip to Australia, amongst other things.. Ill start with a few pictures from my recent trip to Namibia. Recently, I had the good fortune to spend a couple of weeks in the Sperrgebiet in Namibia doing some fieldwork on behalf of De Beers. I do not blog about my industry work here on Georneys (unless the work is published and thus in the open domain), so I cant share the details of my trip. However, I can share a few pictures of some of the "tourist attractions" that I saw during my field work.. Sperrgebiet means "Prohibited Area" in German (the Germans colonized Namibia, so some German words and town names are still found in the country). The ...
We present a quantitative study, using Raman spectroscopy combined with multivariate data analysis, to determine the degree of activation of softwood sulphite dissolving cellulose pulp by aqueous sodium hydroxide. We have chosen industrially relevant conditions, including low stoichiometric ratio of NaOH/Anhydroglucose Unit (AGU) ,2 and highly concentrated caustic (,= 45% w/w [NaOH]). A design of experiments is used to investigate the effects of simultaneous variation of a set of key parameters on the degree of activation (i.e. transformation to alkali cellulose, denoted as DoA): (a) the NaOH/AGU stoichiometric ratio, denoted (r); (b) the concentration of NaOH, denoted [NaOH]; (c) temperature, denoted (T); and (d) reaction time, denoted (t). Solid-state C-13 CP/MAS NMR spectroscopy was applied to investigate the reproducibility of the experiments and to select the range for (t). According to the model, (r) is found to have a statistically significant effect on DoA (increasing from DoA= 6-30% at ...
From the International Geosphere-Biosphere Programme via Eurekalert, some of the heat gets taken off CO2 as the big kahuna of forcings, now there is another major player, one that we can easily do something about. Ive often speculated that black carbon is a major forcing for Arctic sea ice, due to examples like this one. …
Authors=NOGUCHI Satoshi ! TORAMARU Atsushi. Journal/Book_names=EOS ! Transactions, American Geophysical Union 2003 AGU Fall Meeting. Publish_Country=United States. volume=84. number=46 supplement. pages=F1615-F1615. Publish_year=2003. Publisher=American Geophysical Union. Language_of_Text=EN. Data_Type=SE!CO. ISSN=00963941. ID=200318352. ...
Regarding the recent attacks on top climate scientists, Radio Ecoshock takes the case of Richard B. Alley. He is the Evan Pugh Professor of Geosciences, at Penn State University. Alley is a Fellow of the American Geophysical Union (AGU), and a member of the National Academy of Sciences. His popular
Attached (note: attached to the original email) is the FINAL FLYER for the 2nd annual symposium "Soil to Sea Geomorphology". The aim of this symposium is to facilitate the formation of a regional network of scientists studying all aspects of Earth-surface science. It is inspired by community-building events such as the annual Gilbert Club meeting following AGU, and in that spirit there will be ample time for discussion and socializing. Three aspects that make Soil to Sea Geomorphology different, however, are: (1) a majority of presentations will be given by graduate students and postdocs, to give exposure to and encourage constructive discussion of their work at an early stage; (2) attendees will hail from locations typically within a 1-day Amtrak ride, in order to build and strengthen ties among regional institutions that may lead to future collaborations. Thus, we whimsically refer to this new symposium as the "Amtrak Club"; and (3) we anticipate future events changing the venue location and ...
28 peasant activists have been murdered in the last 15 months (since the coup). Last week Paulino Lemus Cruz and Henry Roney Díaz were murdered as well in the Aguán basin. Two peasants have also been kidnapped recently (one of them liberated after torture, the other still missing). In addition also a journalist was killed near Tegucigalpa, the capital (and hes not the first one either ...
Guest post by Mike Jonas A few days ago, on Judith Currys excellent ClimateEtc blog, Vaughan Pratt wrote a post Multidecadal climate to within a millikelvin which provided the content and underlying spreadsheet calculations for a poster presentation at the AGU Fall Conference. I will refer to the work as VPmK. VPmK was a stunningly…
New Delhi, September 19 A Delhi court on Thursday sent Ratul Puri, nephew of Madhya Pradesh Chief Minister Kamal Nath, to judicial custody till October 1 in a money laundering case related to the Agu
I was in San Francisco for my first AGU Fall Meeting last week, and it was quite an event. I attended several (largely ocean) science sessions, conducted numerous important meetings with member and federal representatives, and basked in the enthusiasm of the 25,000-ish attendees from all over the world, many of whom are students finishing their degrees at member institutions who are ready to launch into the "real world." We dramatically increased the exposure of COL (including that of our members and programs) to the geoscience community in attendance, thanks only in small part to the presence of a refreshment stand next to our booth in the exhibit hall. Given the impressive ocean and geophysical knowledge that was on display at this huge event, I am reinvigorated in my optimism about the future of scientific initiatives and the behaviors they will influence in the coming months and years.. An early holiday gift - the recessed House took advantage of a parliamentary loophole to approve the ...
You never know what might be lurking in the freezing fjords of Northern Norway on a winters eve. Storyteller Heidi Dahlsveen shares Norwegian folktales to lighten even the darkest winter night.
A paper just published by the American Geophysical Union has elevated the role of soot - "black carbon" in the science - to a new high in terms of its climate influence.. According to the new study, soot is a stronger influencer of the global climate than methane. While the study doesnt downplay the dominant role of carbon dioxide as the main greenhouse gas, its seen by some commentators as offering a more immediate climate response - cutting black carbon in a shorter timeframe while the world ponders its response to the CO2 problem.. The study, Bounding the role of black carbon in the climate system: A scientific assessment is published in the Journal of Geophysical Research - Atmospheres (abstract here).. Billed as the first quantitative and comprehensive analysis of the climate impact of soot, the study suggests its warming impact could be as much as 1.1 W/m2 on a global basis. Thats around two-thirds of the warming impact of CO2 - and twice the warming estimate previously attributed to ...
The Underwood paper treats the so called Earth Energy Balance diagram of Trenberth as though it is based on science. Firstly, it is not an energy balance diagram. It is a heat flux balance diagram. Thermodynamics is about conservation of total energy, not heat flux. It is not correct to say the heat flux from the sun is equal to the heat flux from the earth.. Next it assumes a balance at the surface of the atmosphere, the surface of the earth and at some point in the atmosphere. It does not matter whether this is flux or total energy because these energy balance points do not exist. Even at the surface of the atmosphere there cannot be a balance in the long term otherwise we would not have experience the ice ages. An accurate climate model must take the energy from the sun as variable and calculate all other variables with no balance points assumed. Such a model may be too complex, but anything else is just nonsense.. The Trenberth diagram is complex but it simplifies to this. The energy from ...
Puzzling out how climate change alters tornados is the big next step, Elsner said. One way this could happen is by adding moisture (via humidity) to fuel storms in Tornado Alley, the storm belt where tornadoes spin up in the United States. Warmer air holds more moisture. But Elsner said it was also important to track tornadoes in Canada, because there are hints that big ridges and troughs in the jet streams powerful winds could be triggering more tornadoes up north, and fewer in the United States. ...
I have been a breeder for more than 20 years, and previously for over 10 years been a leader and breeding council. I am very interested in genetics and do a combination only if I think this will add something positive to the breed. Dog Show is not only a virtue out of necessity, but has also been an enjoyable hobby over the years. I am also a ring steward and an instructor in obedience, and a fan of clicker training. If you have future plans of showing and breeding Papillons, I will be more that happy to share my knowledge with you. ...
Last full day of #AGU17 exhibition! Dont miss out on your chance to explore our books and journals at booth 1227,… https://t.co/4DQJ1B6uSl ...
Bonnell, J.W., J R Wygant, C A Cattell, J Dombeck, F S Mozer, Ergun, R.E., S. Bale, C. C. Chaston, K. A. Goetz, D. Baker*, X. Li*, M. K. Hudson*, I. Mann, D. Brautigam, J Albert, J Foster, R Strangeway, The Electric Field and Waves (EFW) Instrument on the NASA Radiation Belt Storm Probes (RBSP) Mission: Investigating the Physical MeChan*isms of Energetic Particle Acceleration in the Inner Magnetosphere, Fall AGU Meeting, San Francisco, 2008 ...
360° panorama photo from Norway by Tord Remme. Ocean View at Godøynes near Saltstraumen (and 25 km from Bodø) in northern Norway. People have li...
Amidst all of the changes that 2016 has brought, AGA remains a strong advocate for the entire GI community, including clinicians, researchers and educators.
Download 5 Aplikasi Edit, Remix, atau Mixing Lagu Gratis untuk PC dan Laptop yang Menjadikan Hasil Remix Sebagai Musik DJ atau Membuat Musik Dance Download 5 Aplikasi Edit, Remix, atau Mixing Lagu Gratis untuk PC. Alamat Untuk Download Lagu Dj, Gudang download lagu mp3 dan video clips gratis terbesar dan terlengkap di dunia, update file lagu mp3 dan video clips dalam hitungan detik 24 jam. Chart Top Albums Top Songs Indonesia USA. Download Lagu Untuk Apa Download Download Lagu Untuk Apa Song Mp3. We dont upload Download Lagu Untuk Apa, We just retail information from other sources & hyperlink to them. When there is a damaged backlink were not. Jadi seorang dj tuh mesti punya banyak koleksi lagu buat khusus ngdj, jadi audien gak boring atau bosan dengan lagu-lagu yang kita mainkan..Minimal pertampil ada lagu barunya.. Terus cara dapet lagu buat ngedj dimana bro. Download Lagu Indonesia Terbaru hanya di gudang lagu mp3 Gratis Terlengkap. Koleksi lagu di gudang lagu agu dilengkapi dengan lirik ...
Pure Essence Labs Candex Yeast Management SysytemFor over five years, Candex has provided the most potent blend of plant based, fiber digesting enzymes available for those suffering from candida. It is the only such product that has been proven in clinical trials, and has helped countless people live richer, fuller lives. It works very quickly, overcoming common vaginal infections in just days, and making a difference you can feel -- in even the worst of systemic problems -- within a week or so. Supplement Facts Serving Size: 4 Capsules Suggested Use: Two capsules, at least one hour before breakfast, and two at bedtime, at least two hours after eating, until desired results are achieved. Always take on an empty stomach with 8 oz. of water. For maintenance, one capsule at bedtime. Ingredient %DV Vegetarian Cellulase 148,000 CU * Vegetarian Hemicellulase 60,000 HCU * Vegetarian Amylase 8000 DU *M Vegetarian Glucoamylase 400 AGU * Vegetarian Invertase 2000 SU * Vegetarian Malt Diastase
Skibotn (Norwegian), Ivgobahta (Northern Sami), or Yykeänperä (Kven) is a village in Storfjord Municipality in Troms county, Norway. It is located on the southeastern shore of the Lyngen fjord in Northern Norway. The village area is located at the crossroads of the European route E6 and European route E8 highways. The distance by road to Kilpisjärvi, the northernmost community in the western "arm" of Finland, is approximately 50 kilometres (31 mi). Skibotn Chapel is located in the village.[3] The 0.95-square-kilometre (230-acre) village has a population (2017) of 524 which gives the village a population density of 552 inhabitants per square kilometre (1,430/sq mi).[1] The modern day residents of Skibotn are mostly either descendants of the Kven people and Sami people, or immigrants-and their descendants-from Southern and Central Norway. ...
PRPS1 Aspartylglucosaminuria; 208400; AGA Asphyxiating thoracic dystrophy 2; 611263; IFT80 Asphyxiating thoracic dystrophy 3; ...
1983). "Aspartylglucosaminuria in the United States". Clin. Genet. 23 (6): 427-35. doi:10.1111/j.1399-0004.1983.tb01977.x. PMID ... 1991). "Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of ... The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. GRCh38: Ensembl release 89: ... 1991). "Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease". ...
... molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland". Prenatal ... Aspartylglucosaminuria, a lysosomal storage disease Congenital adrenal hyperplasia Congenital nephrotic syndrome, a kidney ...
Defects in glycoprotein degradation Aspartylglucosaminuria Fucosidosis Mannosidosis Sialidosis (mucolipidosis I) Another type, ...
... a part of computer processors involved in performing memory accesses Aspartylglucosaminuria, a rare genetic illness All Grown ...
Alkaptonuria Aspartylglucosaminuria Methylmalonic acidemia Maple syrup urine disease Homocystinuria Tyrosinemia ...
Wolman disease Oligosaccharide Alpha-mannosidosis Beta-mannosidosis Aspartylglucosaminuria Fucosidosis Lysosomal transport ...
Fucosidosis Aspartylglucosaminuria Alpha-mannosidosis Other Wolman disease (acid lipase deficiency) Immunodeficiencies T-cell ...
Defects in glycoprotein degradation Aspartylglucosaminuria Fucosidosis Mannosidosis Sialidosis (mucolipidosis I) (E77.8) Other ...
Asbestosis Ascariasis Ascher's syndrome Aseptic meningitis Asherman's syndrome Ashman phenomenon Aspartylglycosaminuria ...
Acromegaly Alpha-mannosidosis type II Aspartylglycosaminuria Battaglia Neri syndrome Borjeson Syndrome Chromosome 6q deletion ...
... is a genetic condition that is inherited from both parents. The AGU patient is born with two copies of ... Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This condition is less common in other countries, ... Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by ... Aspartylglycosaminuria at NIH's Office of Rare Diseases Rare Trait Hope Fund - international advocate organization for ...
Alpha Mannosidosis is a progressive disorder, and its presence should be suspected in patients with cognitive disabilities, skeletal changes (e.g. swollen joints, curved spine), hearing loss and recurrent infections. Although children with the condition are often born seemingly normal, their condition deteriorates with age. Alpha-mannosidosis can impact on a patient's quality of life in many ways, including their ability to live independently, socialise or find employment.[2][7] Generally, phenotypes of alpha-mannosidosis patients are not clearly distinguishable, which makes a prediction of the clinical course for an individual patient challenging.[2] Patients may present to doctors, nurses or health visitors at different stages of progression, and with different ad hoc symptoms, making the link to suspect a diagnosis of alpha-mannosidosis difficult.[2] The main symptoms can also be shared with those of other lysosomal storage disorders, such as mucopolysaccharidosis.[2] Given the progressive ...
... s are proteins which contain oligosaccharide chains (glycans) covalently attached to amino acid side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known as glycosylation. Secreted extracellular proteins are often glycosylated. In proteins that have segments extending extracellularly, the extracellular segments are also often glycosylated. Glycoproteins are also often important integral membrane proteins, where they play a role in cell-cell interactions. It is important[according to whom?] to distinguish endoplasmic reticulum-based glycosylation of the secretory system from reversible cytosolic-nuclear glycosylation. Glycoproteins of the cytosol and nucleus can be modified through the reversible addition of a single GlcNAc residue that is considered reciprocal to phosphorylation and the functions of these are likely to be additional regulatory mechanism that controls phosphorylation-based signalling.[2] In ...
Aspartylglucosaminuria is a genetic condition that is inherited from both parents. The AGU patient is born with two copies of ... Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This condition is less common in other countries, ... Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by ... Aspartylglycosaminuria at NIHs Office of Rare Diseases Rare Trait Hope Fund - international advocate organization for ...
a zip file of the full study records in XML for all studies in the search results table (max 10000 ...
The Mammalian Phenotype (MP) Ontology is a community effort to provide standard terms for annotating phenotypic data. You can use this browser to view terms, definitions, and term relationships in a hierarchical display. Links to summary annotated phenotype data at MGI are provided in Term Detail reports.
Aspartylglycosaminuria: a review. Orphanet J Rare Dis 2016;11:162 doi:10.1186/s13023-016-0544-6 pmid:27906067. ... Progressive nature of aspartylglucosaminuria. Acta Paediatr 2002;91:255-57 doi:10.1080/08035250252833842 pmid:12022293. ... Brain MRI findings in aspartylglucosaminuria. J Neuroradiol 2015;42:345-57 doi:10.1016/j.neurad.2015.03.003 pmid:26026191. ... Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation. J Child Neurol 1997;12:36 doi: ...
How common is Aspartylglucosaminuria? Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This ... ISMRD is the international organization for Aspartylglucosaminuria. *• ISMRDs Facebook page; this is a closed group for ... OMIM: Technical information about the genetics of Aspartylglucosaminuria. OMIM is a site developed for scientists and medical ... Aspartylglucosaminuria (AGU) is caused by deficiency of the enzyme N-aspartyl-beta-glucosaminidase. ...
Aspartylglycosaminuria: a review. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis ... Aspartylglycosaminuria: a review - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible ... Aspartylglucosaminuria AGU, a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein ... AGUAspartylglucosaminuria, Aspartylglycosaminuria. GlcNAc-Asn2-acetamido-1-β-L-aspartamido-1,2-didieoxyglucose, ...
Aspartylglycosaminuria is a classical lysosomal storage disorder caused by defective activity of the lysosomal hydrolase ... Aspartylglucosaminuria Pictures of typical Aspartylglucosaminuria symptoms from the Geneva Foundation for Medical Education and ... Aspartylglycosaminuria Lists signs and symptoms, and references.. *Online Mendelian Inheritance in Man Detailing the state of ... Aspartylglycosaminuria is a classical lysosomal storage disorder caused by defective activity of the lysosomal hydrolase ...
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Aspartylglycosaminuria ... Aspartylglycosaminuria Title Other Names:. Aspartylglucosaminuria; Aspartylglucosamidase (AGA) deficiency; AGU; ... Aspartylglycosaminuria is inherited. in an autosomal recessive. fashion and caused by mutations. in the AGA gene. . It is ... Adults with aspartylglucosaminuria may develop seizures. or problems with movement.[3] People with this condition may also have ...
Aspartylglucosaminuria NEW YORK CLIENTS. The tests listed and any subsequent familial variant testing are approved or ... Aspartylglucosaminuria (AGU) is a lysosomal storage disorder. The intrauterine and early development of individuals with AGU is ...
Aspartylglucosaminuria. Pathologic Processes. Carbohydrate Metabolism, Inborn Errors. Metabolism, Inborn Errors. Genetic ... Aspartylglucosaminuria Adrenoleukodystrophy (ALD) Krabbe Disease Metachromatic Leukodystrophy (MLD) Sphingolipidoses ... aspartylglucosaminuria fucosidosis leukoencephalopathy with vanishing white matter megalencephalic leukoencephalopathy with ...
Aspartylglucosaminuria. Niemann-Pick Disease, Type B. Disease. Pathologic Processes. Genetic Diseases, Inborn. Metabolic ... Hurlers Syndrome Maroteaux-Lamy Syndrome Sly Syndrome Alpha Mannosidosis Fucosidosis Aspartylglucosaminuria Sphingolipidoses ... aspartylglucosaminuria frontotemporal dementia with parkinsonism-17 fucosidosis leukoencephalopathy with vanishing white matter ... Aspartylglycosaminuria Niemann-Pick Disease Type B Mucopolysaccharidosis Mucopolysaccharidosis Type I ...
Aspartylglucosaminuria. More OMIM information for AGA. Register. If you would like to be informed when the status of this gene ...
Aspartylglucosaminuria. *Fucosidosis. *Galactosialidosis. *(and 6 more...). Observational. *Greenwood Genetic Center. Other. * ...
Aspartylglucosaminuria. Syndrome. Metabolism, Inborn Errors. Pick Disease of the Brain. Aphasia, Primary Progressive. ... Hurlers Syndrome Maroteaux-Lamy Syndrome Sly Syndrome Alpha Mannosidosis Fucosidosis Aspartylglucosaminuria Sphingolipidoses ... Aspartylglucosaminuria Frontotemporal dementia with parkinsonism-17 Fucosidosis Leukoencephalopathy with vanishing white matter ... Aspartylglycosaminuria Niemann-Pick Disease Type B Mucopolysaccharidosis Mucopolysaccharidosis Type I ...
Aspartylglucosaminuria. Metabolic Diseases. Disease. Syndrome. Pathologic Processes. Central Nervous System Diseases. Nervous ... Aspartylglycosaminuria Refsum Disease Mucopolysaccharidosis Type VII Leukodystrophy Metachromatic Leukodystrophy Hurler ... Aspartylglucosaminuria Glycoprotein Metabolic Disorders Sphingolipidoses Recessive Leukodystrophies Globoid Cell Leukodystrophy ... Aspartylglucosaminuria Fucosidosis Leukoencephalopathy with vanishing white matter Megalencephalic leukoencephalopathy with ...
Genetics Home Reference: aspartylglucosaminuria (National Library of Medicine) * Genetics Home Reference: beta-ketothiolase ...
Genetics Home Reference: aspartylglucosaminuria (National Library of Medicine) * Genetics Home Reference: Bannayan-Riley- ...
Genetics Home Reference: aspartylglucosaminuria (National Library of Medicine) * Genetics Home Reference: beta-ureidopropionase ...
1997) Aspartylglucosaminuria: Radiologic course of the disease with histopathologic correlation. J Child Neurol 12:369-375. ... 1972) Aspartylglucosaminuria. Biochemical studies on brain, liver, kidney and spleen. Acta Neuropathol 20:217-224. ... 1968) Aspartylglucosaminuria. An inborn error of metabolism associated with mental defect. Lancet 2:253-255. ... 1973) Aspartylglucosaminuria (AGU). Further aspects on its clinical picture, mode of inheritance and epidemiology based on a ...
PRPS1 Aspartylglucosaminuria; 208400; AGA Asphyxiating thoracic dystrophy 2; 611263; IFT80 Asphyxiating thoracic dystrophy 3; ...
Diagnosis of aspartylglycosaminuria (Panel) CHU de Lyon HCL - GH Est. Purpose(s) : Antenatal diagnosis, Post-natal diagnosis. ...
Aspartylglucosaminuria; Ataxia with vitamin E deficiency; Ataxia-telangiectasia; Autosomal recessive spastic ataxia of ... Aspartylglucosaminuria; Ataxia with vitamin E deficiency; Ataxia-telangiectasia; Autosomal recessive spastic ataxia of ... Aspartylglucosaminuria; Ataxia with vitamin E deficiency; Ataxia-telangiectasia; Autosomal recessive spastic ataxia of ...
aspartylglycosaminuria, see Aspartylglucosaminuria. *asphyxiating thoracic chondrodystrophy, see Asphyxiating thoracic ...
Aspartylglucosaminuria (R. Tikkanen and A. Banning). Aspartylglucosaminuria (AGU) is a rare genetic disorder caused by ... The spectrum of diseases in our research focus include lysosomal storage disorders (aspartylglucosaminuria, neuronal ceroid ... Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria. Sci. Rep. 6, 37583 ... Amlexanox Provides a Potential Therapy for Nonsense Mutations in the Lysosomal Storage Disorder Aspartylglucosaminuria. BBA - ...
1983). "Aspartylglucosaminuria in the United States". Clin. Genet. 23 (6): 427-35. doi:10.1111/j.1399-0004.1983.tb01977.x. PMID ... 1991). "Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of ... The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. GRCh38: Ensembl release 89: ... 1991). "Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease". ...
  • Aspartylglucosaminuria AGU, a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. (duhnnae.com)
  • Adults with aspartylglucosaminuria may develop seizures or problems with movement. (cdc.gov)
  • Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. (wikipedia.org)
  • We report on a pair of non‐Finnish siblings with aspartylglucosaminuria with autofluorescent inclusion bodies on optical coherence tomography, a finding not previously reported in this disorder. (octnews.org)
  • Aspartylglucosaminuria is a genetic condition that is inherited from both parents. (wikipedia.org)
  • Jesús Terán Peredo International Airport (IATA airport code), located in Aguascalientes, Mexico Air Guadeloupe, an airline operating in 1994-2000 Asian Gymnastics Union, a continental union under the International Federation of Gymnastics (FIG) Address generation unit, a part of computer processors involved in performing memory accesses Aspartylglucosaminuria, a rare genetic illness All Grown Up! (wikipedia.org)
  • Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. (ismrd.org)
  • This biochemical analysis of Aspartyglucosaminidase enzyme activity can be used for patients with a clinical suspicion of Aspartylglucosaminuria or to clarify molecular findings in the AGA gene. (isinproduction.com)
  • Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues. (wikipedia.org)
  • Individuals with aspartylglucosaminuria usually survive into mid-adulthood. (cdc.gov)
  • This has an excellent description of Aspartylglucosaminuria and has many references to other information and resources. (ismrd.org)
  • Since ear infections and respiratory infections are common for children diagnosed with aspartylglucosaminuria, it is best to have regular checkups for both the ears and the respiratory tract. (wikipedia.org)