Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes
スポンサーリンク
概要
- 論文の詳細を見る
- 2002-01-01
著者
-
YAMADA Takeshi
Department of Cardiology, Kouseikai Takeda Hospital
-
SAKURABA HITOSHI
Department of Clinical Genetics, the Tokyo Metropolitan Institute of Medical Science, Tokyo Metropol
-
Itoh Kohji
Department of Medicinal Biotechnology, Institute of Health Biosciences, The University of Tokushima
-
Sakuraba H
Department Of Analytical Biochemistry Meiji Pharmaceutical University
-
Itoh K
Tokyo Metropolitan Inst. Medical Sci. Tokyo Jpn
-
KIRA Jun-ichi
Department of Neurology, Graduate School of Medical Sciences, Kyushu University
-
Pshezhetsky Alexey
Service De Genetique Medicale Department De Pediatrie Hopital Sainte-justine Universite De Montreal
-
NAGANAWA Yasunori
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropol
-
MATSUZAWA Fumiko
Celestar Lexico Sciences
-
AIKAWA Seiichi
Celestar Lexico Sciences
-
DOI Hirofumi
Celestar Lexico Sciences
-
SASAGASAKO Naokazu
Department of Neurology, Hamanomachi Hospital, Federation of Public Services and Affiliated Personal
-
KOBAYASHI Takuro
Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu Univers
-
Itoh Kohji
Department Of Biology Chiba University
-
Kanzaki Tamostu
Department Of Dermatology Field Of Sensory Organs Graduate School Of Medical And Dental Sciences Kag
-
KANZAKI Tamotsu
Uchinoura Town Hospital
-
Sakuraba Hitoshi
Department Of Analytical Biochemistry Meiji Pharmaceutical University
-
Sakuraba Hitoshi
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science
-
Kanekura Takuro
Department Of Dermatology Field Of Sensory Organology Kagoshima University Graduate School Of Medica
-
Kira Jun-ichi
Department Of Neurology Neurological Institute Graduate School Of Medical Sciences Kyushu University
-
Kira Jun-ichi
Department Of Neurology Graduate School Of Medical Sciences Kyushu University
-
Doi Hirofumi
Celestar Lexico-sciences Inc.
-
Aikawa Seiichi
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science Tokyo Metropolit
-
Yamada T
Department Of Agricultural Chemistry Faculty Of Bioresources Mie University
-
Kobayashi Takayoshi
Department Of Neurology Neurological Institute Graduate School Of Medical Sciences Kyushu University
-
Kanzaki Tamostu
Department Of Dermatology Kagoshima University Graduate School Of Medical And Dental Sciences
-
Kanekura Takuro
Department Of Dermatology School Of Medicine Kagoshima University
-
Kobayashi T
Department Of Anatomy And Cell Biology Kochi Medical School
-
Sakuraba Hitoshi
Department Of Clinical Genetics Meiji Pharmaceutical University
-
Matsuzawa Fumiko
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science Tokyo Metropolit
-
Naganawa Yasunori
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science Tokyo Metropolit
-
Sasagasako Naokazu
Department Of Neurology Hamanomachi Hospital Federation Of Public Services And Affiliated Personal A
-
Itoh Kohji
Department Of Applied Electronics Science University Of Tokyo
-
Kobayashi Takuro
Department Of Dermatology Field Of Sensory Organology Kagoshima University Graduate School Of Medica
-
Yamada Takeshi
Department Of Anesthesiology Iida Municipal Hospital
-
Yamada Takeshi
Department Of Neurology Neurological Institute Graduate School Of Medical Sciences Kyushu University
-
Aikawa S
Celestar Lexico-Sciences, Inc.
-
Doi H
Celestar Lexico Sciences
-
Sasagasako N
Department of Neurology, Hamanomachi Hospital, Federation of Public Services and Affiliated Personal Aid Association
-
Kira J
Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
-
Pshezhetsky AV
Service de Genetique Medicale, Department de Pediatrie, Hopital Sainte-Justine, Universite de Montreal
関連論文
- Erythropoietin in Patients With Acute Coronary Syndrome and Its Cardioprotective Action After Percutaneous Coronary Intervention
- Generation of human induced pluripotent stem cells from oral mucosa(CELL AND TISSUE ENGINEERING)
- 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
- PJ-232 Postconditioning and Early ST-Segment Resolution in Patients with Acute Myocardial Infarction and Its Cardioprotective Action after Mechanical Reperfusion Therapy(PJ039,Cardiac Function (Clinical) 2 (M),Poster Session (Japanese),The 73rd Annual Sci
- PJ-340 The Relationship between Progression of Coronary Artery Plaques and Plaque Composition : Virtual Histology Intravascular Ultrasound Analysis(Intravascular endoscopy/Intravascular ultrasound(06)(I),Poster Session(Japanese),The 72nd Annual Scientific
- PE-507 Long term outcome of contrast-induced nephropathy after coronary angiography in diabetes patient with chronic kidney disease(Coronary revascularization, PCI(15)(IHD),Poster Session(English),The 72nd Annual Scientific Meeting of the Japanese Circula
- 1P168 クライオ電子顕微鏡法による車軸藻ミオシンの高速移動分子メカニズムの解明(分子モーター,第48回日本生物物理学会年会)
- 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
- PET evaluation of the relationship between D_2 receptor binding and glucose metabolism in patients with parkinsonism
- 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
- Electrocardiographic and Electrophysiologic Characteristics in Patients With Brugada Type Electrocardiogram and Inducible Ventricular Fibrillation : Single Center Experience
- Identifying the Origin of Right and Left Ectopic Atrial Beats Triggering Atrial Fibrillation before Atrial Transseptal Procedure
- PJ-615 Prognostic Value of Induced Ventricular Fibrillation in Patients with Brugada Syndrome : Single Center Experience(Arrhythmia, diagnosis/pathophysiology/EPS-14 (A) PJ103,Poster Session (Japanese),The 70th Anniversary Annual Scientific Meeting of the
- Molecular and structural studies of Japanese patients with sialidosis type 1
- Autonomous Proliferation of HTLV^-CD4^+ T Cell Clones Derived from Human T Cell Leukemia Virus Type I (HTLV-I)-Associated Myelopathy Patients
- 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
- A Study on Optimal Data Reconstruction form OFDM Signal whose Data Symbols are Spread in Frequency Domain ((放送方式、放送現業、無線・光伝送)2000 Asia-Pacific Symposium on Broadcasting and Communications)
- 3P-155 電子顕微鏡-三次元再構成法を用いた車軸藻ミオシンの構造(分子モーター(3),第46回日本生物物理学会年会)
- A-5-27 A Study on Coding Gain and Diversity Gain in Coded Orthogonal Multi-Carrier Modulation Systems
- The Optimum Channel Estimation for Coherent Receivers in Multicarrier CDMA System with Antenna Array(Special Issue on Multiple Access and Signal Transmission Techniques for Future Mobile Communications)
- Joint Estimation of Delay and DOA Channel Characteristics Using Circular Array Antenna for MC/CDMA
- Atrial Electrophysiological Abnormality in Patients With Brugada Syndrome Assessed by P-Wave Signal-Averaged ECG and Programmed Atrial Stimulation
- Negative Feedback Regulation of Phosphatidylinositol 3-Kinase/Akt Pathway by Over-Expressed Cyclooxygenase-2 in Human Epidermal Cancer Cells
- 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.
- 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
- MYOCARDIAL INFARCTION DUE TO METASTASIS OF CHORIOCARCINOMA IN A 29-YEAR-OLD WOMAN
- Complete response of a patient with advanced gastric cancer, showing Epstein-Barr virus infection, on preoperative chemotherapy with S-1 and cisplatin
- 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
- Transient Burning Pain in the Ipsilateral Orbit as an Initial Manifestation of Dorsal Pontine Hemorrhage : Case Report
- Transrectal ultrasound navigation during minilaparotomy retropubic radical prostatectomy : Impact on positive margin rates and prediction of earlier return to urinary continence
- A Novel Program "cardioGRAF" of Gated-SPECT for Regional Systolic-diastolic Assessment : The Predictors for Cardiac Events in Patients with Non-ischemic CHF(Nuclear Cardiology 12 (I), The 69th Annual Scientific Meeting of the Japanese Circulation Society)
- Purification and Some Properties of Glutaminase from Pseudomonas nitroreducens IFO 12694
- Molecular and cellular analyses of HLA class II-associated susceptibility to autoimmune diseases in the Japanese population
- Neurological signs and symptoms in patients with chronic PCB poisoning (Yusho accident) for more than 36 years
- Exacerbation of Chronic Inflammatory Demyelinating Polyradiculoneuropathy during Interferonβ-1b Therapy in a Patient with Childhood-onset Multiple Sclerosis
- High Incidence of Subclinical Peripheral Neuropathy in Myelitis with HyperlgEaemia and Mite Antigen-specific IgE (Atopic Myelitis): an Electrophysiological Study
- Hyperprolactinemia in Optico-spinal Multiple Sclerosis
- Ocular dominancy in conjugate eye movements at reading distance
- Biochemical and Immunological Characterization of Ribosomal Fraction and Culture Filtrate from Mycobacterium
- Technique for a hybrid system of real-time transrectal ultrasound with preoperative magnetic resonance imaging in the guidance of targeted prostate biopsy
- 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)
- Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vector
- A column-switching LC/MS/ESI method for detecting tetrodotoxin and Aconitum alkaloids in serum
- γ-Glutamyl Transfer Reactions by Glutaminase from Pseudomonas nitroreducens IFO 12694 and Their Application for the Syntheses of Theanine and γ-Glutamylmethylamide
- Encapsulation of Biocatalyst with PVA Capsules
- Highly Efficient Synthesis of Oligo-N-acetylglucosamines by Iterative Glycosylation of Di- and Tetrachlorophthaloyl-protected Thioglucosamines
- A New Method for the Synthesis of Stannyl Ethers by Acid-Catalyzed Reaction of Alcohols with Allyltributylstannane
- Stabilization of Flavobacterium meningosepticum Glycerol Kinase by Introduction of a Hydrogen Bond(Biochemistry & Molecular Biology)
- Quantitative Detection of Apoptotic Thymocytes in Low-dose X-irradiated Mice by an Anti-single-stranded DNA Antibody
- Inhibitory Effects of Verapamil and Nitroglycerin on Contraction and Cytosolic Ca^ Levels in Cerebrovascular Smooth Muscle During Chronic Cerebral Vasospasm
- 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
- Phospho-Pivot Modeling Predicts Specific Interactions of Protein Phosphatase-1 with a Phospho-Inhibitor Protein CPI-17
- Regression of intestinal adenomas by vaccination with heat shock protein 105-pulsed bone marrow-derived dendritic cells in Apc^ mice
- Sodium Fluoride (NaF) Releases the Two-Cell Block in Mouse Embryos
- Using Imaging Mass Spectrometry to Accurately Diagnose Fabry's Disease
- Extinction of Organelles in Differentiating Epidermis
- Preconcentration of Trace Aluminum from Environmental Water Samples with 5'-Chloro-5-dodecyl-2, 4, 2'-trihydroxyazobenzene Impregnated Macroporous Resin
- Behavior and Origin of Atmospheric NO_2, SO_2, and O_3 in Mountains around the Kyoto Basin
- 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
- Enhancing Effect of an Inhibitor of Nitric Oxide Synthesis on Bacillus Calmette Guerin-induced Macrophage Cytotoxicity against Murine Bladder Cancer Cell Line MBT-2 in vitro
- Extracellular Antigens of Actinobacillus actinomycetemcomitans Y4 in Severe Alveolar Bone Loss Patients Studied by Two-Dimensional Electrophoresis and Western Blots
- 3H-Leucine Uptake of Developing Hypothalamic Nuclei in Rats and Its Fluctuation after Ovariectomy
- Developmental Cell Dynamics in the Hypothalamus, the Anterior Pituitary and the Ovary of the Rat
- Influence of Ethanol on Metabolism of Methamphetamine in Rats Including Hair Analysis
- A metabonomic approach identifies human urinary phenylacetylglutamine as a novel marker of interstitial cystitis
- Line Edge Roughness of Developed Resist with Low-Dose Electron Beam Exposu
- Group Velocity Measurement of Surface Waves by the Wavelet Transform
- Effect of Stress, Metyrapone and Adrenalectomy on Compensatory Ovarian Hypertrophy
- Metabolic Fate of 3H-Testosterone Administered into the Fetoplacental Compartments
- Effect of clonidine premedication on postoperative sore throat and hoarseness after total intravenous anesthesia
- Presence of Hypothalamo-Pituitary Testicular Axis in the Early Postnatal Period
- Uptake of 3H-Leucine in the Brain of the Female Rat and Its Change after Castration
- Pyogenic Liver Abscess Caused by Direct Invasion of Esophageal Squamous Cell Carcinoma to the Liver : Report of a Case
- Nitrate Removal Efficiency and Bacterial Community Dynamics in Denitrification Processes Using Poly (L-lactic acid) as the Solid Substrate
- 3M0924 クライオ電子顕微鏡法による車軸藻ミオシンの高速移動分子メカニズムの解明(分子モーター4,第49回年会講演予稿集)