Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI

スポンサーリンク

概要

• 論文の詳細を見る
• 2012-04-01

著者

• Sakuraba Hitoshi

  Department Of Analytical Biochemistry Meiji Pharmaceutical University

• Sakuraba Hitoshi

  Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science

• Sekijima Masakazu

  Global Scientific Information And Computing Center Tokyo Institute Of Technology University

• OHNO Kazuki

  NPO for the Promotion of Research on Intellectual Property Tokyo

• Sakuraba Hitoshi

  Department Of Clinical Genetics Meiji Pharmaceutical University

• Saito Seiji

  Graduate School Of Agricultural And Life Sciences The University Of Tokyo

• Suzuki Toshihiro

  Department Of Analytical Biochemistry Meiji Pharmaceutical University

• Saito Seiji

  Department Of Applied Sciences Faculty Of Engineering Osaka University

• Sekijima Masakazu

  Global Scientific Information And Computing Center Tokyo Institute Of Technology

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
• Fractional Elution and Determination of Uranium and Vanadium Adsorbed on Amidoxime Fiber from Seawater
• II-B-09 Intercellular transport of glucose via gap junctions in the rat cochlea(THE 45TH ANNUAL MEETING OF THE JAPAN SOCIETY OF HISTOCHEMISTRY AND CYTOCHEMISTRY)
• Determination of plasma thiol bound to albumin using affinity chromatography and high-performance liquid chromatography with fluorescence detection : Ratio of cysteinyl albumin as a possible biomarker of oxidative stress
• 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
• ARSENIC ACCUMULATION DECREASED IN METALLOTHIONEIN NULL CISPLATIN-RESISTANT CELL LINES
• Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes
• Analysis of Cisplatin Behavior in a Non-Small Cell Lung Cancer (NSCLC) Cell Line
• 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
• 3P046 動きの特徴を用いたタンパク質構造の時系列解析(蛋白質-構造機能相関,第48回日本生物物理学会年会)
• 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
• Measurement of homocysteine thiolactone hydrolase activity using high-performance liquid chromatography with fluorescence detection and polymorphisms of paraoxonase in normal human serum
• MRP5b/SMRP mRNA is Highly Expressed in Metallothionein-Deficient Mouse Liver
• 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
• Effect of Vitamin B_6 Compounds in Some Microorganisms Producing Vitamin B_6
• Combined mobilization and stimulation of tumor-infiltrating dendritic cells and natural killer cells with Flt3 ligand and IL-18 in vivo induces systemic antitumor immunity
• Generation of mature dendritic cells fully capable of T helper type 1 polarization using OK-432 combined with prostaglandin E_2
• Syringocystadenoma papilliferum associated with apocrine poroma
• 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
• A Case of Angiolymphoid Hyperplasia with Eosinophilia (ALHE) of the Upper Lip
• H-Gallosilicate-Catalyzed Degradation of Polythylene into Aromatic Hydrocarbons Using Different Types of Reactors
• 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)
• Regulation of Lankamycin Biosynthesis in Streptomyces rochei by Two SARP Genes, srrY and srrZ
• 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
• Semiquantitative Vestibulotoxicity to Subablative and Ablative Treated Gerbil Cristae Using Gentamicin or Streptomycin
• 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
• Fe, Sm, Sm_2Fe_表面上でのNH_3合成
• Three-dimensional brain visualization for metachromatic leukodystrophy
• Gene disruption analysis of two glycosylation steps in lankamycin biosynthesis in Streptomyces rochei
• TED-AJ03-203 MATHEMATICAL MODELING OF HEAT TRANSFER BETWEEN THE WELL AND SURROUNDING ROCKS
• Function analysis of the promoter gene of the human COL1A1 and analysis of DNA binding factors in the transcription enhancement region
• EXPONENTIAL DECAY OF SOLUTIONS OF LINEAR EVOLUTION EQUATIONS IN A BANACH SPACE
• Thermodynamic properties of K_2Si_4O_9 and Na_2Si_4O_9 glasses quenched from melts at high pressures and high temperatures
• Hadron Electromagnetic and Weak Form Factors in the Minimal Boosted SU(6) Scheme of the Relativistic Quark Model
• Lactic-acid stress causes vacuolar fragmentation and impairs intracellular amino-acid homeostasis in Saccharomyces cerevisiae(GENETICS, MOLECULAR BIOLOGY, AND GENE ENGINEERING)
• 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
• Lactic-acid stress causes vacuolar fragmentation and impairs intracellular amino-acid homeostasis in Saccharomyces cerevisiae
• 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
• Disruption of multiple genes whose deletion causes lactic-acid resistance improves lactic-acid resistance and productivity in Saccharomyces cerevisiae(GENETICS, MOLECULAR BIOLOGY, AND GENE ENGINEERING)
• 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
• Anti-angiogenic effect of α-mangostin
• Reinvestigation on thermal cycloaddition of 1-aryl-2-(9-fluorenylidene)-1-haloethylenes.

もっと見る 閉じる

スポンサーリンク