SAKURABA HITOSHI | Department of Clinical Genetics, the Tokyo Metropolitan Institute of Medical Science, Tokyo Metropol

スポンサーリンク

概要

関連著者

もっと見る

著作論文

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
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)
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
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
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
Accumulation of GM2 Ganglioside in Niemann-Pick Disease Type C Fibroblasts
Structural basis of neuronal ceroid lipofuscinosis 1

もっと見る

スポンサーリンク