Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid α-glucosidase"
スポンサーリンク
概要
- 論文の詳細を見る
- Springer Japanの論文
- 2007-11-01
著者
-
TSUJINO Seiichi
Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP
-
SAKURABA HITOSHI
Department of Clinical Genetics, the Tokyo Metropolitan Institute of Medical Science, Tokyo Metropol
-
Sakuraba H
Department Of Analytical Biochemistry Meiji Pharmaceutical University
-
Suzuki T
Departments Of Analytical Biochemistry Meiji Pharmaceutical University
-
Tajima Youichi
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science Tokyo Metropolit
-
TSUJI Akihiko
Department of Biological Science and Technology, The University of Tokushima Graduate School
-
Suzuki T
Department Of Xenobiotic Metabolism And Molecular Toxicology Institute Of Pharmaceutical Sciences Hi
-
Edmunds Tim
Genzyme Corporation
-
TSUKIMURA Takahiro
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropol
-
IKEKITA Masahiko
Department of Applied Biological Science, Faculty of Science and Technology, Tokyo University of Sci
-
MATSUZAWA Fumiko
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropol
-
AIKAWA Sei-ichi
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropol
-
OKUMIYA Toshika
Department of Analytical Biochemistry, School of Health Sciences, Kumamoto University
-
YOSHIMIZU Michiru
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropol
-
Sakuraba Hitoshi
Department Of Analytical Biochemistry Meiji Pharmaceutical University
-
Sakuraba Hitoshi
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science
-
Ikekita Masahiko
Department Of Applied Biological Science Faculty Of Science And Technology Science University Of Tok
-
Tsukimura Takahiro
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science Tokyo Metropolit
-
Tsuji Akihiko
Department Of Biological Science And Technology Faculty Of Engineering University Of Tokushima
-
Aikawa Seiichi
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science Tokyo Metropolit
-
Tsujino Seiichi
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur
-
Tsujino Seiichi
Department Of Peripheral Nervous System Research National Institute Of Neuroscience Ncnp
-
Yoshimizu Michiru
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science Tokyo Metropolit
-
Okumiya Toshika
Department Of Analytical Biochemistry School Of Health Sciences Kumamoto University
-
Sakuraba Hitoshi
Department Of Clinical Genetics Meiji Pharmaceutical University
-
Ikekita Masahiko
Department Of Applied Biological Science Faculty Of Science And Technology Tokyo University Of Scien
-
Ikekita Masahiko
Department Of Applied Biological Science Faculty Of Science And Technology
-
Matsuzawa Fumiko
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science Tokyo Metropolit
-
Tsuji Akihiko
Department Of Biological Science And Technology Faculty Of Engineering The University Of Tokushima
-
Tajima Youichi
Department Of Clinical Genetics Meiji Pharmaceutical University
-
Tsukimura Takahiro
Department of Analytical Biochemistry, Meiji Pharmaceutical University
関連論文
- A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
- Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis : a common mutation, R179X
- Transcriptional Regulation of cGMP-Dependent Protein Kinase II (cGK-II) in Chondrocytes
- 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
- 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
- An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAP
- 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
- Isolation and Biochemical Characterization of Two Forms of RD21 from Cotyledons of Daikon Radish (Raphanus sativus)
- 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
- Electron microscopical and immunohistochemical studies on the localization of cathepsin B, D, L, LAMP-1 and μ-calpain in developing hair follicles
- Localization of Cathepsins B, D, L, LAMP-1 and μ-Calpain in Developing Hair Follicles
- P-10 Localization of Cathepsin B and μ Calpain in Hair Follicles of Neonatal Rats.
- 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
- Effects of Environmental Antiandrogenic Chemicals on Expression of Androgen-Responsive Genes in Rat Prostate Lobes
- Quantitative Determination of Lobe Specificity of mRNA Expression of Androgen-dependent Genes in the Rat Prostate Gland
- Estrogen enhancement of androgen-responsive gene expression in hormone-induced hyperplasia in the ventral prostate of F344 rats
- Metabolic Activation of Proestrogenic Diphenyl and Related Compounds by Rat Liver Microsomes
- Novel Metabolic Pathways of p-n-Nonylphenol Catalyzed by Cytochrome P450 and Estrogen Receptor Binding Activity of New Metabolites
- 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
- Ganglioside GT1b in Rat Brain Binds to p58,a Brain-Specific Sodium-Dependent Inorganic Phosphate Cotransporter:Expression Cloning with a Specific Monoclonal Antibody to Ganglioside GT1b-Binding Protein
- Evidence for Direct Binding of Intracellularly Distributed Ganglioside GM2 to Isolated Vimentin Intermediate Filaments in Normal and Tay-Sachs Disease Human Fibroblasts
- MR imaging and ^1H-MR spectroscopy of a case of van der Knaap disease
- A common mutation and a novel mutation in Japanese patients with van der Knaap disease
- A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease) : molecular genetic study
- Urinary excretion of the vitron receptor (integrin αυβ_3) in patients with non-insulin dependent diabetes mellitus
- T_h1/T_h2 cell differentiation of developing CD4 single-positive thymocytes
- Molecular genetic study in Japanese patients with Alexander disease : a novel mutation, R79L
- Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis
- Cycloheximide Suppresses Radiation-induced Apoptosis in MOLT-4 Cells with Arg72 Variant of p53 through Translational Inhibition of p53 Accumulation
- Subtilisin-Like Proprotein Convertases, PACE4 and PC8, as Well as Furin, are Endogenous Proalbumin Convertases in HepG2 Cells
- Stable Ammonia-specific NAD Synthetase from Bacillus stearothermophilus : Purification, Characterization, Gene Cloning, and Applications(Microbiology & Fermentation Technology)
- 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)
- Establishment of immortalized Schwann cells from Sandhoff mice and corrective effect of recombinant human β-hexosaminidase A on the accumulated GM2 ganglioside
- Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vector
- AMELIORATION OF PROLIDASE DEFICIENCY IN FIBROBLASTS USING ADENOVIRUS MEDIATED GENE TRANSFER
- A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P
- Coordinate Involvement of Cell Cycle Arrest and Apoptosis Strengthen the Effect of FTY720
- Genomic Organization and Alternative Splicing of Human PACE4 (SPC4), Kexin-Like Processing Endoprotease
- Stabilization of Flavobacterium meningosepticum Glycerol Kinase by Introduction of a Hydrogen Bond(Biochemistry & Molecular Biology)
- Human Subtilisin-Like Proprotein Convertase, PACE4 (SPC4) Gene Expression Is Highly Regulated through E-Box Elements in HepG2 and GH4C1 Cells
- Production of n-octanoyl-modified Ghrelin in Cultured Cells Requires Prohormone Processing Protease and Ghrelin O-acyltransferase, as well as n-octanoic Acid
- Removal of necrotic tissue with an ananain-based enzyme-debriding preparation
- Subcutaneous Arginine Administration Causes Apoptosis of Rat Pancreas
- Monoclonal antibody 1C8 raised against postnatal nerve growth cone-enriched fraction recognizes sialylated carbohydrate epitope in both neurons and exocrine goblet cells
- Induction of mitochondria-involved apoptosis in estrogen receptor-negative cells by a novel tamoxifen derivative, ridaifen-B
- 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
- Purification and Characterization of a Novel Serine Proteinase from the Microsomal Fraction of Bovine Pancreas^1
- The Proprotein Convertase PACE4 Is Upregulated by PDGF-BB in Megakaryocytes : Gene Expression of PACE4 and Furin Is Regulated Differently in Dami Cells
- 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
- Actin-Actin Contact: Chemical Cross-Linking between Actin and the 2.6-kDa Peptide from Subdomain 4 of Actin
- Accumulation of GM2 Ganglioside in Niemann-Pick Disease Type C Fibroblasts
- Structural basis of neuronal ceroid lipofuscinosis 1
- Cycloheximide Suppresses Radiation-induced Apoptosis in MOLT-4 Cell with Arg72 Variant of p53 through Translational Inhibition of p53 Accumulation
- A critical role for highly conserved Glu^ residue of oligopeptidase B from Trypanosoma brucei in thermal stability
- Nobiletin, a citrus polymethoxyflavonoid, suppresses multiple angiogenesis-related endothelial cell functions and angiogenesis in vivo
- Three-dimensional brain visualization for metachromatic leukodystrophy
- Transcriptional Regulation of cGMP-Dependent Protein Kinase II (cGK-II) in Chondrocytes
- Subtilisin-like Proprotein Convertase PACE4 is Required for Skeletal Muscle Differentiation
- Identification of Oligopeptidase B in Higher Plants. Purification and Characterization of Oligopeptidase B from Quiescent Wheat Embryo, Triticum aestivum
- The Expression of Proprotein Convertase PACE4 Is Highly Regulated by Hash-2 in Placenta : Possible Role of Placenta-Specific Basic Helix-Loop-Helix Transcription Factor, Human Achaete-Scute Homologue-2
- Inactivation of Proprotein Convertase, PACE4, by α1-Antitrypsin Portland (α1-PDX), a Blocker of Proteolytic Activation of Bone Morphogenetic Protein during Embryogenesis: Evidence That PACE4 Is Able to Form an SDS-Stable Acyl Intermediate with α1- PDX
- A Novel Human PACE4 Isoform, PACE4E Is an Active Processing Protease Containing a Hydrophobic Cluster at the Carboxy Terminus^1
- Identification of Specific [^3H]Adenine-Binding Sites in Rat Brain Membranes
- The mechanical binding strengths of Helicobacter pylori BabA and SabA adhesins using an adhesion binding assay-ELISA, and its clinical relevance in Japan
- The expression of proprotein convertase PACE4 is highly regulated by Hash-2 in placenta: Possible role of placenta-specific basic helix-loop-helix transcription factor, human achaete-scute homologue-2
- Identification of a plant aminopeptidase with preference for aromatic amino acid residues as a novel member of the prolyl oligopeptidase family of serine proteases
- 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
- 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