Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information
スポンサーリンク
概要
- 論文の詳細を見る
- Nature Publishing Groupの論文
- 2010-03-01
著者
-
Sugawara Kanako
Department Of Analytical Biochemistry Meiji Pharmaceutical University
-
Sakuraba Hitoshi
Department Of Analytical Biochemistry Meiji Pharmaceutical University
-
Sakuraba Hitoshi
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science
-
OHNO Kazuki
NPO for the Promotion of Research on Intellectual Property Tokyo
-
Sugawara Kanako
Department Of Clinical Genetics Meiji Pharmaceutical University
-
Sakuraba Hitoshi
Department Of Clinical Genetics Meiji Pharmaceutical University
-
Saito Seiji
Department Of Applied Sciences Faculty Of Engineering Osaka University
-
SESE Jun
Department of Computer Science, Ochanomizu University
-
Sese Jun
Department Of Computer Science Ochanomizu University
関連論文
- ヒトαガラクトシダーゼA(hαG)トランスジェニックマウスの組織内で長期間発現したhαGの分布
- 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
- Risk factors for total knee arthroplasty in rheumatoid arthritis
- 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
- The serum concentration of infliximab in cases of autologous blood donation for patients with rheumatoid arthritis
- 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
- Tilted Uniaxial Magnetic Anisotropy in Sputtered TbFeCo Films
- 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
- N-Terminal region of Na^+, K^+-ATPase α1-subunit interacts with β1-subunit
- PA3-3 Foot Trajectory Pattern and Perception of Foot Position while Stepping over an Obstacle in the Elderly(Proceedings of The 8th International Congress of Physiological Anthropology)
- 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
- Form Factor Effect on Photodecay Processes of "ψ" Particles into a Pseudoscalar Meson in a Relativistic Composite Particle Model
- Using Imaging Mass Spectrometry to Accurately Diagnose Fabry's Disease
- Extinction of Organelles in Differentiating Epidermis
- Foreign Body Removal in Children Using a Tracheal/Bronchial Tube
- Significant Decrease in Tropoelastin Gene Expression in Fibroblasts from a Japanese Costello Syndrome Patient with Impaired Elastogenesis and Enhanced Proliferation
- Effects of Worn-Out Soles on Lower Limb Stability, Shock Absorption and Energy Cost during Prolonged Walking
- 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
- TED-AJ03-203 MATHEMATICAL MODELING OF HEAT TRANSFER BETWEEN THE WELL AND SURROUNDING ROCKS
- EXPONENTIAL DECAY OF SOLUTIONS OF LINEAR EVOLUTION EQUATIONS IN A BANACH SPACE
- Hadron Electromagnetic and Weak Form Factors in the Minimal Boosted SU(6) Scheme of the Relativistic Quark Model
- 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
- 大規模糖鎖相互作用情報データの解析
- High-throughput screening identified disease-causing-mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients
- 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
- Current Vertex Functions in the Relativistic Composite Particle Model of Hadrons
- FOREIGN BODIES OF DENTAL ORIGIN IN THE AIR AND FOOD PASSAGES
- 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
- Reinvestigation on thermal cycloaddition of 1-aryl-2-(9-fluorenylidene)-1-haloethylenes.