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.
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)
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
The N-acetyl derivative of glucosamine.
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)
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
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)
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
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 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.
The anterior subdivision of the embryonic PROSENCEPHALON or the corresponding part of the adult prosencephalon that includes the cerebrum and associated structures.
An antibiotic produced by the soil actinomycete Streptomyces griseus. It acts by inhibiting the initiation and elongation processes during protein synthesis.
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.
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.
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).
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.
Group of chronic blistering diseases characterized histologically by ACANTHOLYSIS and blister formation within the EPIDERMIS.
Production of drugs or biologicals which are unlikely to be manufactured by private industry unless special incentives are provided by others.
The deliberate and methodical practice of finding new applications for existing drugs.
Prospective patient listings for appointments or treatments.
The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.
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).
A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract.
Disorders affecting TWINS, one or both, at any age.
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)
A disorder characterized by grinding and clenching of the teeth.
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.
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.
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).

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 ...
Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by a genetic mutation resulting in deficiency or absence of a critical enzyme, leading to the accumulation of toxic deposits in cells across multiple organ systems.. Aspartylglucosaminuria (AGU) is a rare, neurodegenerative, LSD, caused by a deficiency of the aspartylglucosaminidase (AGA) enzyme, which leads to toxic accumulation of aspartylglucosamine and subsequent cellular dysfunction. AGU has been most commonly reported in people of Finnish and Nordic descent, but is present across ethnicities and is typically misdiagnosed or undiagnosed.. Aspartylglucosaminuria (AGU) is characterized by developmental delay and intellectual disability that worsens with age. Early disease is characterized by increased frequency of bacterial ear infections, recurrent ear tube placement, intestinal dysfunction, disruptive sleep patterns, skeletal abnormalities, and gait disturbances, among others. Individuals progressively ...
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. ...
The Education Fellows Selection Committee selects members to be designated as AGU Fellows for recognition of their eminence in Earth and space science.
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…
We report an original technique for femoral access integrating angiographic, guidewire, and ultrasound (AGU) guidance, working together to obtain the best femoral artery stick.
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
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…
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 ...
Humankinds contribution to the amount of nitrogen available to plants on land is now five times higher than it was 60 years ago.
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.
Click here to report technical problems or to provide feedback on this system. For urgently needed technical support, phone 401-334-9902 between the hours of 8:30 AM and 6:00 PM Monday through Friday, US Eastern Standard Time (GMT -05:00), and provide support code 1438 ...
Click here to report technical problems or to provide feedback on this system. For urgently needed technical support, phone 401-334-9902 between the hours of 8:30 AM and 6:00 PM Monday through Friday, US Eastern Standard Time (GMT -05:00), and provide support code 1438 ...
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 ...
Apply to AGU! 100% English Undergraduate and Graduate programs. Third (3rd) Generation University. Top Turkish State University. Great incentives-scholarship
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
Thank you for your interest in presenting at the AGU-NESTA 2019 Fall Geophysical Information for Teachers (GIFT) Workshop. The workshop is scheduled for December 9-10, 2019, at the AGU Fall Meeting. The workshop ...
Apply to AGU! 100% English Undergraduate and Graduate programs. Third (3rd) Generation University. Top Turkish State University. Great incentives-scholarship
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Agu has been working in mobile computing for more than 20 years. Hes researched and developed a range of applications beyond healthcare, including location-aware tour guides and security modules, and a mobile emergency medical services incident reporting app. One focus area is energy management-Agu and his first masters student developed a tool called PowerSpy 13 years ago. It detected which apps and devices were using too much battery power so they could be shut down. This functionality is now widely available on most smartphones today, he says.. He also researches mobile graphics, and has prototyped a middleware architecture that takes up the challenge of rendering high-quality graphics, with their high resource usage, on mobile devices with low resource availability. We synthesized techniques for making graphics more efficient on mobile devices, he says. For instance, 3D graphics content, like meshes and images, can be automatically scaled down based on the target mobile devices ...
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 ...
The Martinelli Fellowship provides funding for Latin American science graduate students or early career scientists to attend and present a paper on a volcano-related topic at a scientific meeting.
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.
Mesh Nebulizer is specifically designed to cure catarrhal diseases of the respiratory tract in children. Its rate helps to carry out the procedure faster than usual
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. ...
Tittgemeyer, M.; Ryberg, T.; Wenzel, F.; Fuchs, K.: Heterogeneity of the uppermost mantle inferred from controlled-source seismology. Conference on Characterization of Small-Scale Crustal Heterogeneity held at the AGU Fall Meeting, SAN FRANCISCO, CA, 1999. Heterogeneity in the Crust and Upper Mantle: Nature, Scaling and Seismic Properties, S. 281 - 297 (2003 ...
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.
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 ...
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 ...
The weekend drive went well, and put us in a great location for some contact science, right near the contact between the Murray and Stimson formations, with some interesting veins and textures in the nearby rocks. Given our nice location, we opted not to do any driving in the Sol 1275 plan and instead study the area in front of us.. The Sol 1275 plan started off with a ChemCam passive sky observation and ChemCam LIBS and RMI observations of the targets Palmhorst, Palmwag, and Mirabib. Mastcam took documentation images of each of the ChemCam targets, plus a couple of mosaics of the Murray-Stimson contact. Later in the day, MAHLI took some images of Mirabib before and after brushing the dust off, as well as mosaics of Palmwag and Palmhorst. APXS then analyzed the composition of Palmwag and then did an overnight measurement of Mirabib.. In todays plan, our goal is to place the rover in position to study some interesting knobby textures. Prior to the drive, Navcam will do some atmospheric ...
UUU 35.6( 75) UCU 13.3( 28) UAU 13.3( 28) UGU 13.8( 29) UUC 49.4( 104) UCC 25.2( 53) UAC 32.8( 69) UGC 23.3( 49) UUA 5.2( 11) UCA 15.2( 32) UAA 1.9( 4) UGA 0.0( 0) UUG 9.5( 20) UCG 1.4( 3) UAG 0.9( 2) UGG 22.8( 48) CUU 14.7( 31) CCU 19.9( 42) CAU 3.3( 7) CGU 5.2( 11) CUC 18.5( 39) CCC 10.9( 23) CAC 8.5( 18) CGC 3.3( 7) CUA 6.2( 13) CCA 13.3( 28) CAA 4.3( 9) CGA 2.8( 6) CUG 30.4( 64) CCG 3.8( 8) CAG 21.4( 45) CGG 1.9( 4) AUU 20.9( 44) ACU 15.7( 33) AAU 10.9( 23) AGU 5.7( 12) AUC 34.2( 72) ACC 24.7( 52) AAC 28.0( 59) AGC 12.3( 26) AUA 4.3( 9) ACA 18.0( 38) AAA 12.3( 26) AGA 5.2( 11) AUG 37.5( 79) ACG 3.8( 8) AAG 22.8( 48) AGG 10.0( 21) GUU 22.3( 47) GCU 38.0( 80) GAU 6.6( 14) GGU 14.7( 31) GUC 28.5( 60) GCC 28.5( 60) GAC 9.5( 20) GGC 18.5( 39) GUA 4.3( 9) GCA 24.2( 51) GAA 17.6( 37) GGA 25.2( 53) GUG 29.4( 62) GCG 4.7( 10) GAG 23.3( 49) GGG 6.2( 13 ...
UUU 10.5( 25) UCU 10.1( 24) UAU 6.3( 15) UGU 5.1( 12) UUC 23.6( 56) UCC 20.2( 48) UAC 22.3( 53) UGC 10.5( 25) UUA 2.1( 5) UCA 7.2( 17) UAA 4.2( 10) UGA 2.5( 6) UUG 9.3( 22) UCG 3.8( 9) UAG 0.4( 1) UGG 8.4( 20) CUU 5.1( 12) CCU 11.8( 28) CAU 6.3( 15) CGU 9.3( 22) CUC 16.0( 38) CCC 17.3( 41) CAC 21.5( 51) CGC 18.1( 43) CUA 3.8( 9) CCA 10.5( 25) CAA 4.6( 11) CGA 4.6( 11) CUG 42.9( 102) CCG 5.1( 12) CAG 25.7( 61) CGG 4.6( 11) AUU 8.0( 19) ACU 9.7( 23) AAU 6.7( 16) AGU 9.7( 23) AUC 36.2( 86) ACC 17.7( 42) AAC 30.7( 73) AGC 15.2( 36) AUA 6.3( 15) ACA 10.9( 26) AAA 30.7( 73) AGA 13.0( 31) AUG 27.8( 66) ACG 5.9( 14) AAG 61.9( 147) AGG 14.7( 35) GUU 10.9( 26) GCU 25.7( 61) GAU 13.5( 32) GGU 16.4( 39) GUC 25.7( 61) GCC 33.2( 79) GAC 32.0( 76) GGC 25.3( 60) GUA 3.8( 9) GCA 12.2( 29) GAA 15.2( 36) GGA 26.1( 62) GUG 41.7( 99) GCG 7.2( 17) GAG 42.9( 102) GGG 9.7( 23 ...
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.. ...
Ever wonder what it might be like to work for NASA? This year at the American Geophysical Union (AGU) Annual Meeting (kind of like a huge IVSS as it is virtual this year), NASA shared a wealth of resources to help anyone interested in working with or for NASA to find their place! Take a look at this site and explore the myriad of amazing opportunities and programs that exist for a wide... ...
Ever wonder what it might be like to work for NASA? This year at the American Geophysical Union (AGU) Annual Meeting (kind of like a huge IVSS as it is virtual this year), NASA shared a wealth of resources to help anyone interested in working with or for NASA to find their place! Take a look at this site and explore the myriad of amazing opportunities and programs that exist for a wide... ...
The AGU Chapman Conference on water vapour and its role in climate has come to a close, and I have headed back to not so sunny London. In addition to getting scientists out of the lab, the meeting afforded great opportunities for normally independent communities to interact. Pupu platters and Longboard Ales led to a very interesting discussion about the meaning of terms such as mean global precipitation and temperature rise. Are statistics such as these preventing scientists from meaningfully communicating results about climate change? This of course comes back to old faithful argument if the Earth is getting warmer, why did it snow last week? Definitely something to think about when preparing press releases or giving interviews. BACK TO ARTICLE. ...
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.
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 ...
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 ...
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…
PRPS1 Aspartylglucosaminuria; 208400; AGA Asphyxiating thoracic dystrophy 2; 611263; IFT80 Asphyxiating thoracic dystrophy 3; ...
A family with two children diagnosed with aspartylglucosaminuria-case report and literature review]". Zhonghua Er Za Zhi. 52 (6 ...
... molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland". Prenatal ... Finnish type Lethal arthrogryposis with anterior horn cell disease Aspartylglucosaminuria Autoimmune polyendocrinopathy ...
... aspartylglucosaminuria, fucosidosis, Schindler disease, and sialidosis amongst other diseases. It is a longitudinal study of ...
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 ...
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 ...
"Aspartylglucosaminuria". "Aspartylglucosaminuria". "Archived copy". Archived from the original on 2013-04-28. Retrieved 2013-04 ... Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This condition is less common in other countries, ... Aspartylglucosaminuria is an autosomal recessive genetic condition that is inherited from both parents. The AGU patient is born ... Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by ...
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. Carbohydrates are attached to some proteins to form glycoproteins. 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 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 ...
"Aspartylglucosaminuria". "Aspartylglucosaminuria". "Archived copy". Archived from the original on 2013-04-28. Retrieved 2013-04 ... Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This condition is less common in other countries, ... Aspartylglucosaminuria is an autosomal recessive genetic condition that is inherited from both parents. The AGU patient is born ... Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by ...
Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.Infants with ... aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. Explore ... Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This condition is less common outside of Finland, ... Adults with aspartylglucosaminuria may develop seizures or problems with movement.. People with this condition may also have ...
Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning. Explore symptoms, inheritance, ... Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This condition is less common outside of Finland, ... Adults with aspartylglucosaminuria may develop seizures or problems with movement.. People with this condition may also have ... Mutations in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called ...
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.
Aspartylglucosaminuria. Entry Number; 208400: Last Edit Date; 4/11/2003.. Aspartylglycosaminuria. The Society for ... However, aspartylglycosaminuria can occur in people of all heritages.. Chromosomes, which are present in the nucleus of human ... Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish decent, but is also found ... Aspartylglycosaminuria is a rare disorder that affects males and females in equal numbers. However, in Finland where the ...
A Natural History Study of Aspartylglucosaminuria (AGU). The safety and scientific validity of this study is the responsibility ... Aspartylglucosaminuria (AGU) is a rare, neurodegenerative, LSD, caused by a deficiency of the aspartylglucosaminidase (AGA) ... Aspartylglucosaminuria (AGU) is characterized by developmental delay and intellectual disability that worsens with age. Early ... MedlinePlus Genetics related topics: Aspartylglucosaminuria Schindler disease Genetic and Rare Diseases Information Center ...
Aspartylglucosaminuria (AGU) is a rare hereditary disorder mostly affecting the Finnish population, with only a few sp … ... Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria Br J Dermatol. 2002 Oct;147(4):760-4. doi: ... Aspartylglucosaminuria (AGU) is a rare hereditary disorder mostly affecting the Finnish population, with only a few sporadic ...
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. ...
Aspartylglucosaminuria is a rare autosomal recessive lysosomal storage disorder leading early to a progressive intellectual ... Although aspartylglucosaminuria was suspected early, the definite diagnosis was not confirmed until the age of 18 years. A ... Biochemical investigations suggested aspartylglucosaminuria, and a novel homozygous mutation c.439T,C (p.S147P) was found in ... Aspartylglucosaminuria is a rare autosomal recessive lysosomal storage disorder leading early to a progressive intellectual ...
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 ...
PRPS1 Aspartylglucosaminuria; 208400; AGA Asphyxiating thoracic dystrophy 2; 611263; IFT80 Asphyxiating thoracic dystrophy 3; ...
... 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. More OMIM information for AGA. Register. If you would like to be informed when the status of this gene ...
... aspartylglycosaminuria, GM1 gangliosidosis, sialidosis, sialic acid storage disease, galactosialidosis, multiple sulfatase ...
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 ...
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 ...
Diseases associated with DCTD include Aspartylglucosaminuria and Granulomatosis With Polyangiitis. Among its related pathways ...
Pathogenic: Aspartylglucosaminuria. 177,433,295(-). G/A NM_000027.4(AGA):c.859C,T (p.Gln287Ter) NONSENSE,NON_CODING_TRANSCRIPT ... Uncertain Significance: Aspartylglucosaminuria. 177,434,431(-). C/T NM_000027.4(AGA):c.757G,A (p.Ala253Thr) MISSENSE_VARIANT, ... Uncertain Significance: Aspartylglucosaminuria. 177,431,762(-). C/G NM_000027.4(AGA):c.987G,C (p.Met329Ile) MISSENSE_VARIANT, ... Pathogenic: Aspartylglucosaminuria. 177,439,593(-). AGT/A NM_000027.4(AGA):c.367_368AC[4] (p.Leu126fs) FRAMESHIFT_VARIANT,NON_ ...
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 - ...
Aspartylglycosaminuria. *Aspergillosis. *Asphyxiating Thoracic Dystrophy. *Astrocytoma. *Ataxia Telangiectasia. *Ataxia with ...
Aspartylglucosaminuria. AGU. AT. Ataxia telangiectasia. AT, Louis-Bar syndrome. Autoimmune lymphoproliferative syndrome. ALPS, ...
aspartylglucosaminuria NIH. *cartilage-hair hypoplasia NIH. *choroiderimia NIH. *Cohen syndrome NIH. *congenital chloride ...
Aula, P., Rapola, J., von Koskull, H., et al., 1984, Prenatal diagnosis and fetal pathology of aspar-tylglucosaminuria, Am. J. ... Aula, P., Raivio, K., and Autio, S., 1976, Enzymatic diagnosis and carrier detection of aspar-tylglucosaminuria using blood ...
  • Aspartylglucosaminuria (AGU) is a rare, neurodegenerative, LSD, caused by a deficiency of the aspartylglucosaminidase (AGA) enzyme, which leads to toxic accumulation of aspartylglucosamine and subsequent cellular dysfunction. (clinicaltrials.gov)
  • Aspartylglucosaminuria (AGU) is caused by deficiency of the enzyme N-aspartyl-beta-glucosaminidase. (ismrd.org)
  • RESULTS: The characteristic MS and MS/MS molecular profiles obtained allowed us to identify fucosidosis, aspartylglucosaminuria, GM1 gangliosidosis, Sandhoff disease, α-mannosidosis, sialidosis and mucolipidoses type II and III. (inserm.fr)
  • Aspartylglucosaminuria is a rare autosomal recessive lysosomal storage disorder leading early to a progressive intellectual disability. (nih.gov)
  • Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). (mendelian.co)
  • Aspartylglucosaminuria (AGU) is a rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance and, ultimately, premature death, and has no available treatments. (clinicaltrials.gov)
  • Aspartylglucosaminuria (AGU) is a neurodegenerative lysosomal storage disease that is caused by mutations in the gene encoding for a soluble hydrolase, aspartylglucosaminidase (AGA). (jneurosci.org)
  • Aspartylglucosaminuria is a genetic condition that is inherited from both parents. (wikipedia.org)
  • Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish decent, but is also found, even more rarely, in other populations around the world. (rarediseases.org)
  • At birth, there is no sign that a child will develop symptoms of aspartylglucosaminuria. (wikipedia.org)
  • Less severe symptoms include: enlargement of the spleen and liver diarrhea People with aspartylglucosaminuria may have lower than average height, because they tend to go through puberty earlier. (wikipedia.org)
  • loss of these cells causes many of the signs and symptoms of aspartylglucosaminuria. (medlineplus.gov)
  • Symptoms of the following disorders can be similar to those of Aspartylglycosaminuria. (rarediseases.org)
  • Aspartylglucosaminuria Pictures of typical Aspartylglucosaminuria symptoms from the Geneva Foundation for Medical Education and Research. (inter.rs)
  • Aspartylglycosaminuria Lists signs and symptoms, and references. (inter.rs)
  • Infants with aspartylglycosaminuria appear healthy at birth with signs and symptoms beginning around the age of 2 or 3. (cdc.gov)
  • Adults with aspartylglucosaminuria may develop seizures or problems with movement. (medlineplus.gov)
  • Sleep-related hypermotor seizures in aspartylglucosaminuria: a case report. (sparrho.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)
  • 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 a rare hereditary disorder mostly affecting the Finnish population, with only a few sporadic patients of non-Finnish origin. (nih.gov)
  • 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)
  • 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)
  • Aspartylglycosaminuria is a rare disorder that affects males and females in equal numbers. (rarediseases.org)
  • Aspartylglycosaminuria is a classical lysosomal storage disorder caused by defective activity of the lysosomal hydrolase aspartylglucosaminidase. (inter.rs)
  • Aspartylglucosaminuria (AGU) is a lysosomal storage disorder. (genedx.com)
  • Aspartylglucosaminuria is a lysosomal storage disorder enriched in Finland. (octnews.org)
  • The classical aspartylglucosaminuria phenotype (progressive speech delay, psychomotor retardation, and behavioral abnormalities) was observed in 3 Turkish siblings. (nih.gov)
  • The confirmation of the diagnosis of aspartylglucosaminuria requires a blood test. (wikipedia.org)
  • When families have a child who has already been diagnosed with AGU, they have the option to observe the enzyme's activity that codes for AGU in future pregnancy, to help determine if the next child will also have a positive diagnosis for aspartylglucosaminuria. (wikipedia.org)
  • Although aspartylglucosaminuria was suspected early, the definite diagnosis was not confirmed until the age of 18 years. (nih.gov)
  • Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. (medlineplus.gov)
  • In the present paper we shall discuss the only two diseases of glycoprotein storage that have so far been well delineated, mannosidosis and aspartylglucosaminuria. (springer.com)
  • In order to develop aspartylglucosaminuria, the individual must inherit changes in both of his AGU genes (autonomic recessive inheritance). (wikipedia.org)
  • Aspartylglycosaminuria occurs as a result of deficient activity of a particular enzyme, leading to the accumulation of metabolic products in the body. (rarediseases.org)
  • Infants with aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. (medlineplus.gov)
  • Infants with aspartylglycosaminuria appear healthy at birth, and development is typcailly normal throughout childhood. (cdc.gov)
  • No treatment is available to cure or slow down the progression of aspartylglucosaminuria. (wikipedia.org)
  • Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning. (medlineplus.gov)
  • Aspartylglycosaminuria is a very rare lysosomal storage disease that causes a progressive decline in mental functioning. (cdc.gov)
  • Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. (genecards.org)
  • In humans, the deficient AGA activity results in a lysosomal storage disease, aspartylglucosaminuria (AGU) resulting in progressive neurodegeneration. (biochemj.org)
  • Aronson NN Jr. Aspartylglycosaminuria: biochemistry and molecular biology. (medlineplus.gov)
  • These 5 cases emphasize that aspartylglucosaminuria is panethnic and may possibly present with prenatal manifestation. (nih.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)
  • The plan is to move its lead programs, for Aspartylglucosaminuria (AGU) and a rare form of Charcot-Marie Tooth disease, into IND-enabling studies this year, with clinical trials slated for 2020. (fiercebiotech.com)
  • Dysmorphic facial features in aspartylglucosaminuria patients and carriers. (medlineplus.gov)
  • Screening for aspartylglucosaminuria should be done in all patients with unexplained psychomotor retardation. (nih.gov)
  • Aspartylglucosaminuria (AGU) is characterized by developmental delay and intellectual disability that worsens with age. (clinicaltrials.gov)
  • However, aspartylglycosaminuria can occur in people of all heritages. (rarediseases.org)