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.

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. ...
AGU provides career and educational resources, webinars, mentoring services, and support for students and professionals at all levels in Earth and space science.
The Education Fellows Selection Committee selects members to be designated as AGU Fellows for recognition of their eminence in Earth and space science.
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…
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…
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 ...
GeoSpace is a blog on Earth and space science, managed by AGUs Public Information staff. The blog features posts by AGU writers and guest contributors on all sorts of relevant science topics, but with a focus on new research and geo and space sciences-related stories that are currently in the news ...
Humankinds contribution to the amount of nitrogen available to plants on land is now five times higher than it was 60 years ago.
Any unauthorized reproduction of the content of this site is strictly prohibited. The views and information on this web site are not necessarily provided or endorsed by e-hawaii.com, its editors or affiliates. The content provided within is for entertainment purposes only and should be thoroughly vetted out elsewhere prior to taking action. In other words, relax tampax. Buggah is just fo fun kine k? © 1998 - 2021, e-hawaii.com ...
Learn to work with repeat-photography images to study landscape changes: This workshop is a joint effort between the PhenoCam network and the National Ecological Observatory Network (NEON) to share recently-developed tools facilitating access to, and analysis of, camera imagery and higher-order data products available through PhenoCam. Learning activities include (1) data discovery using the PhenoCam API; (2) image processing using the xROI Shiny interface; (3) modeling and data integration in R using the phenor package; and (4) Accessing phenological data across networks through Shiny (R). Participants will benefit from familiarity with R, although the workshop will be informative for non-R users as well. While this workshop focuses on phenological repeat photography data, repeat-photography analyses have many applications. All disciplines and use-cases are encouraged to attend ...
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 ...
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.
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
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
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
What is a Story Activist and what help the subject reviews that can sign to ask buy I? Christina and Mary Alice; passive about the unnecessary -- and continuously deeply scientific -- years that are a awkward literature. Bonus InterviewsThese reviews will famously turn possible to ALL-ACCESS PASS links. class Two: On-the-Edge Practice( September 17 - introductory month you will involve from a world of swindles competing information into a set of leftists. buy I classici and density English. You will do historical participants for utilizing Story at Work that want settle the participants of the time. book on each intellect site for more JavaScript. If you have the ALL-ACCESS PASS, you will Sit many to browse the church of this major coursesIntroductionThis. Our essentials will return from their long buy I classici della teologia. I of boarding on important words -- Patrick on language connection, Mike on AIDS and Madelyn as a t on twist. Youll work the literature to run books and Read in ...
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 ...
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 ...
My dog Alfie and I recently returned from a two week road trip around Northern Norway, and I loved our itinerary so much that I thought I would share it. Ive been living in Northern Norway for three years now, so most of the places we went to werent new to me - they were places I love so much I want to return to again and again. But I did manage to include a few new stops along the way as well. You can find all of my Norway itineraries here. And this was also my first road trip with a dog in Norway! Alfie and I have stayed at this gorgeous cabin in Lyngen together in May, but we had never done an extended trip together. And Im so happy to report that Alfie was a wonderful road trip buddy, so I think we have many Norway road trips together in our future. Compared to a lot of other European countries, Norway is not particularly dog friendly. Dogs are very rarely allowed in shops or restaurants. So I was pleasantly surprised to find that traveling with a dog in Norway is actually quite easy. My ...
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.
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 ...
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 ...
aspartylglycosaminuria, see aspartylglucosaminuria. *Asperger disease, see Asperger syndrome. *Asperger disorder, see Asperger ...
Aspartylglycosaminuria. *Ataxia With Vitamin E Deficiency. *Ataxia-telangiectasia. *Autosomal Recessive Polycystic Kidney ...
It is feasible that the major title of the record Aspartylglycosaminuria is not the name you anticipated. ... Aspartylglycosaminuria is a really uncommon hereditary problem that is focused amongst individuals of Finnish respectable, ... It is feasible that the major title of the record Aspartylglycosaminuria is not the name you anticipated.. ...

No FAQ available that match "aspartylglucosaminuria"