Fabry-database.org : database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease
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概要
- 論文の詳細を見る
- 2011-06-01
著者
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Sakuraba Hitoshi
Department Of Analytical Biochemistry Meiji Pharmaceutical University
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Sakuraba Hitoshi
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science
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OHNO Kazuki
NPO for the Promotion of Research on Intellectual Property Tokyo
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Sakuraba Hitoshi
Department Of Clinical Genetics Meiji Pharmaceutical University
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Saito Seiji
Graduate School Of Agricultural And Life Sciences The University Of Tokyo
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Saito Seiji
Graduate School Of Agricultural And Life Science The University Of Tokyo:genaris Inc.
関連論文
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- Accumulation of cholesterol and G_ ganglioside in cells cultured in the presence of progesterone:an implication for the basic defect in Niemann-Pick disease typc C
- Microbial Serine Carboxypeptidase Inhibitors : Comparative Analysis of Actions on Homologous Enzymes Derived from Man, Yeast and Wheat
- Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes
- Molecular and structural studies of Japanese patients with sialidosis type 1
- Structural basis of the GM2 gangliosidosis B variant
- Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice
- Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder
- Uptake of a Recombinant Human α-L-Iduronidase (laronidase) by Cultured Fibroblasts and Osteoblasts(Molecular and Cell Biology)
- Establishment of immortalized Schwann cells from Fabry mice and their low uptake of recombinant α-galactosidase
- Corrective effect on Fabry mice of yeast recombinant human α-galactosidase with N-linked sugar chains suitable for lysosomal delivery
- Localization of Cathepsins B, D, L, LAMP-1 and μ-Calpain in Developing Hair Follicles
- Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid α-glucosidase"
- Three dimensional structural studies of α-N-acetylgalactosaminidase (α-NAGA) in α-NAGA deficiency (Kanzaki disease) : different gene mutations cause peculiar structural changes in α-NAGAs resulting in different substrate specificities and clinical phenoty
- II-C-21 Morphological analysis of the effects of enzyme replacement therapy for Fabry model mice(THE 45TH ANNUAL MEETING OF THE JAPAN SOCIETY OF HISTOCHEMISTRY AND CYTOCHEMISTRY)
- Structural and immunocytochemical studies on α-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease)
- Molecular and structural studies of the GM2 gangliosidosis O variant
- Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis
- Fabry disease in patients receiving maintenance dialysis
- High Incidence of Thrombosis in Fabry's Disease
- Molecular form and subcellular distribution of acid β-galactosidase in fibroblasts from patients with G_ gangliosidosis,Morquio B disease and galactosialidosis
- Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis
- TWO NOVEL MUTATIONS IN THE α-GALACTOSIDASE GENE IN JAPANESE CLASSICAL HEMIZYGOTES WITH FABRY DISEASE
- Evidence for Direct Binding of Intracellularly Distributed Ganglioside GM2 to Isolated Vimentin Intermediate Filaments in Normal and Tay-Sachs Disease Human Fibroblasts
- Urinary excretion of the vitron receptor (integrin αυβ_3) in patients with non-insulin dependent diabetes mellitus
- Inefficiency in GM2 Ganglioside Elimination by Human Lysosomal β-Hexosaminidase β-Subunit Gene Transfer to Fibroblastic Cell Line Derived from Sandhoff Disease Model Mice(Biochemistry)
- Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vector
- Structural characterization of mutant α-galactosidases causing Fabry disease
- Structural study on mutant α-L-iduronidases : insight into mucopolysaccharidosis type I
- Increased expression of β-hexosaminidase α chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I
- Using Imaging Mass Spectrometry to Accurately Diagnose Fabry's Disease
- Extinction of Organelles in Differentiating Epidermis
- Significant Decrease in Tropoelastin Gene Expression in Fibroblasts from a Japanese Costello Syndrome Patient with Impaired Elastogenesis and Enhanced Proliferation
- Accumulation of GM2 Ganglioside in Niemann-Pick Disease Type C Fibroblasts
- Structural basis of neuronal ceroid lipofuscinosis 1
- Three-dimensional brain visualization for metachromatic leukodystrophy
- P-7 Effects of Knee-Raising Function of Adjustable Bed on Lower Leg Swelling in the Elderly(Proceedings of the 55th Meeting of Japan Society of Physiological Anthropology)
- 1-21 Effects of Worn-out Soles on Lower Extremity Stability, Shock Absorption and Energy Consumption during Prolonged Walking(Proceedings of the 55th Meeting of Japan Society of Physiological Anthropology)
- 1P-016 計算的手法を用いた酵素設計 : 部位特異的変異によるパラ水酸化安息香酸水酸化酵素の基質特異性の改変(蛋白質-構造,第47回日本生物物理学会年会)
- Age-related Pattern of Body Composition and Bone Stiffness in the Youth (Proceedings of the 54th Meeting of Japan Society of Physiological Anthropology)
- 2-11 Effects of Worn-out Shoes on the Lower Limbs during Walking(Proceedings of the 53rd Meeting of Japan Society of Physiological Anthropology)
- ON SOLVING EQUATIONS ARISING FROM OPTIMIZATION PROBLEMS BY SOME GENERALIZED NEWTON METHOD
- Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI
- Fabry-database.org : database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease
- Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones
- Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease
- Structural bases of GM1 gangliosidosis and Morquio B disease
- Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information
- High-throughput screening identified disease-causing-mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients
- L-OPTIMIZATION PROBLEMS CONCERNING OIL WELL EQUATIONS
- A Mutant mRNA Expression in an Endomyocardial Biopsy Sample Obtained from a Patient with a Cardiac Variant of Fabry Disease Caused by a Novel Acceptor Splice Site Mutation in the Invariant AG of Intron 5 of the α-Galactosidase A Gene
- Japanese-type adult galactosialidosis. A unique and common splice junction mutation causing exon skipping in the protective protein/carboxypeptidase gene.:A Unique and Common Splice Junction Mutation Causing Exon Skipping in the Protective Protein/Carboxy