Increased levels of GM_2 ganglioside in fibroblasts from a patient with juvenile Niemann - Pick disease type C
スポンサーリンク
概要
著者
-
OHNO Kousaku
Division of Child Neurology, Faculty of Medicine, Tottori University
-
AKABOSHI Shinjiro
Division of Neurology, Iustitute of Neurological sciences, Faculty of Medicine, Tottori University
-
Akaboshi Shinjiro
鳥取大学医学部附属脳幹性疾患研究施設
-
Akaboshi Shinjiro
鳥取大学 生命科学
-
Akaboshi Shinjiro
Division Of Child Neurology Institute Of Neurological Sciences Tottori University Faculty Of Medicin
-
Akaboshi S
Tottori Univ. Tottori
-
Ohno K
Division Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Universit
-
TAI Tadashi
Department of Tumor,Immunology and Clinical Genetics,Tokyo Metropolitan Institute of Medical Science
-
WATANABE Yasuhiro
Division of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University
-
ISHIDA Gen
Division of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University
-
TAKESHIMA Takao
Division of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University
-
YANO Tamami
Division of Neurobiology, School of Life Science, Faculty of Medicine, Tottori University
-
TANIGUCHI Miyako
Division of Neurobiology, School of Life Science, Faculty of Medicine, Tottori University
-
NAKASHIMA Kenji
Division of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University
-
Ohno Kousaku
Division Of Child Neurology Faculty Of Medicine Tottori University
-
Nakashima Kenji
Division Of Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori University
-
Tai Tadashi
Department Of Tumor Immunology And Clinical Genetics Tokyo Metropolitan Institute Of Medical Science
-
Akaboshi Shinjiro
Division Of Child Neurology Institute Of Neurological Sciences. Tottori University
-
Akaboshi Shinjiro
Division Of Child Neurology Institute Of Neurological Sciences
-
Ohno Kousaku
Department Of Neurobiology School Of Life Sciences Tottori University Faculty Of Medicine
-
Ono Kimiyo
Second Department Of Surgery Faculty Of Medicine Tottori University
-
Ishida Gen
Division Of Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori University
-
Yano Tamami
Division Of Neurobiology School Of Life Science Faculty Of Medicine Tottori University
-
Ohno Kousaku
Department Of Pediatric Neurology School Of Life Sciences Tottori University Faculty Of Medicine
-
Taniguchi Miyako
Department Of Biological Regulation School Of Health Sciences Faculty Of Medicine Tottori University
-
Ohno Kousaku
Division Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Universit
-
Watanabe Yasuhiro
Division Of Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori University
-
Nakashima Kenji
Division Of Neurology Faculty Of Medicine Tottori University
-
Ohno Kousaku
Division Of Child Neurology Department Of Brain And Neurosciences Faculty Of Medicine Tottori Univer
-
Ohno Kousaku
Division Of Child Neurology Department Of Brain And Neurosciences Faculty Of Medicine Tottori University
-
NAKASHIMA Kenji
Division of Microbiology, Department of Pathological Sciences, Faculty of Medical Sciences
関連論文
- Frontal behavioral syndromes in Prader-Willi syndrome
- A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
- Peroxisomal bifunctional enzyme deficiency: serial neurophysiological examinations of a case
- Epilepsy in Peroxisomal Diseases
- Underlying neurologic disorders and recurrence rates of status epilepticus in childhood
- Genetic Heterogeneity of Niemann-Pick Disease Type C
- 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
- Increased levels of GM_2 ganglioside in fibroblasts from a patient with juvenile Niemann - Pick disease type C
- Lower brainstem dysfunction in an infant with persistent primitive trigeminal artery
- Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin : A new syndrome?
- Galactonojirimycin derivatives restore mutant human β-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse
- Extraosseous epidural IgD myeloma presenting with compression myelopathy
- Antisense suppression of TSC1 gene product, hamartin, enhances neurite outgrowth in NGF-treated PC12h cells
- Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients
- Structural basis of the GM2 gangliosidosis B variant
- Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex
- Progressive neuronal loss in the ventral posterior lateral and medial nuclei of thalamus in Niemann-Pick disease type C mouse brain
- Isolation of NPC1-Deficient Chinese Hamster Ovary Cell Mutants by Gene Trap Mutagenesis^1
- Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome
- Disappearance of frontal N30 component of median nerve stimulated SSEPs in two young children with abnormal striatal lesions
- Steroid-Responsive Limbic Encephalitis
- Molecular and structural studies of the GM2 gangliosidosis O variant
- A Cell Line Derived from Sphingomyelinosis Mouse Shows Alterations in Intracellular Cholesterol Metabolism Similar to Those in Type C Niemann-Pick Disease
- Molecular Pathological Studies of Familial Amyotrophic Lateral Sclerosis
- Associated factors in neonatal hypoglycemic brain injury
- Late-onset, unusual neurological symptoms in children with mycoplasma infection
- Acute encephalitis with refractory, repetitive partial seizures (AERRPS)
- Bilateral middle cerebral artery infarctions following mild varicella infection : A case report
- Transient encephalopathy with reversible white matter lesions : A case report
- Laminar cortical necrosis in adrenal crisis : Sequential changes on MRI
- Congenital ocular motor apraxia : Clinical and neuroradiological findings, and long-term intellectual prognosis
- A patient with simplified gyral pattern followed by progressive brain atrophy
- Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy
- Delayed neuropsychiatric syndrome in a child following carbon monoxide poisoning
- Acute encephalitis with refractory, repetitive partial seizures : Case reports of this unusual post-encephalitic epilepsy
- Forced mouth opening reaction : A primitive reflex released from cortical inhibition
- 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
- Differential distribution of ganglioside GM1 and sulfatide during the development of Xenoqus
- Evidence for Direct Binding of Intracellularly Distributed Ganglioside GM2 to Isolated Vimentin Intermediate Filaments in Normal and Tay-Sachs Disease Human Fibroblasts
- Protective Effect of Neurotropin Against Lipopolysaccharide-Induced Hypotension and Lethality Linked to Suppression of Inducible Nitric Oxide Synthase Induction
- Bile Aced Profiles in a Peroxisomal D-3-Hydroxyacyl-CoA Dehydratase/D-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency
- Formation of advanced glycation end-productmodified superoxide dismutase-1 (SOD1) is one of the mechanisms responsible for inclusions common to familial amyotrophic lateral sclerosis patients with SOD1 gene mutation, and transgenic mice expressing human S
- Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter
- 軽度認知機能障害スクリーニングに対するコンピュータ検査システムの評価
- A case of brain-biopsy proven progressive multifocal leukoencephalopathy:Pathological findings and analysis of JC virus regulatory region
- Frequency of the Prader-Willi syndrome in the San-in district, Japan
- Cellular senescence of angiofibroma stroma cells from patients with tuberous sclerosis
- Case of a mentally retarded child with non-24 hour sleep-wake syndrome caused by deficiency of melatonin secretion
- Spontaneous Haemophilus Influenzae Type B Meningoventriculitis with Intraventricular Debris
- Carbohydrate-deficient glycoprotein syndrome : electrophoretic study of multiple serum glycoproteins
- Familial limb pain in childhood : Unusual manifestation of migraine?
- Odorant evoked magnetic fields in humans
- Permanent Cardiac Pacing Following Surgery for Acquired Valvular Disease
- Expression of Sialylparagloboside in a Case of Liposarcoma: Aberrant Glycosylation in Tumors Arising in Adipose Tissues
- Globotriaosyl Ceramide and Globoside as Major Glycolipid Components of Fibroblasts in Scirrhous Gastric Carcinoma Tissues
- Polysialogangliosides Expressed by Amelanotic Melanoma : A Possible Explanation for the Poor Response to Anti-monosialoganglioside Antibody 202 in a Patient with Melanoma
- Production of a Recombinant Single-Chain Variable-Fragment (scFv) Antibody against Sulfoglycolipid
- Pontine hypoplasia in a child with sensorineural deafiness
- Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis
- Purulent Meningitis Caused by Actinomyces Successfully Treated with Rifampicin: A Case Report
- An Interspecies Comparison of Placental Gangliosides
- An Interspecies Comparison of Placental Gangliosides
- Branched-Chain Amino Acid Therapy for Spinocerebellar Degeneration:A Pilot Clinical Crossover Trial
- Japanese familial amyotrophic lateral sclerosis family with a two-base deletion in the sutperoxide dismutase-1 gene
- Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex
- Induction of Apoptosis of Rat Neonatal Cardiomyocytes by Chemical Ischemia and Reoxygenation: The Role of Phosphatidylserine
- SI-4 Immunohistochemical Analysis of Glycosphingolipids in the Central Nervous System Using Specific Monoclonal Antibodies
- Differential Distribution of Glycosphingolipid Antigens in the Central Nervous System (Recent Progresses in Carbohydrate Histochemistry)
- Apoptosis Involved in Density-dependent Regulation of Rat Fibroblastic 3Y1 CellCulture
- MOLECULAR EPIDEMIOLOGY OF TUBEROUS SCLEROSIS
- Prolonged silent periods produced by magnetic cortical stimulation in patients with cerebellar ataxia
- Relationship between Three-year Survival and Functional Outcome at Discharge from Acute-care Hospitals in Each Subtype of First-ever Ischemic Stroke Patients
- Usefulness of ^F-fluorodeoxyglucose positron emission tomography for diagnosis of asymptomatic giant cell arteritis in a patient with Alzheimer's disease
- Accumulation of GM2 Ganglioside in Niemann-Pick Disease Type C Fibroblasts
- Altered Sensitivities to Potential Inhibitors of Cholesterol Biosynthesis in Niemann-Pick Type C Fibroblasts
- Vertical ophthalmoplegia in a demented patient with striatopallidodentate calcification
- Forced normalization induced by ethosuximide therapy in a patient with intractable myoclonic epilepsy
- Effective anticonvulsant therapy in a patient with limb shaking : A case report
- Epidemiology of inflammatory neurological and inflammatory neuromuscular diseases in Tottori Prefecture, Japan
- 一過性 Extreme Spindle を示した亜急性マイコプラスマ脳炎の一例
- Epidemiology of Cerebrovascular Disease
- Down 症候群剖検1514例における良性および悪性腫瘍の検討
- Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy
- The effect of N-octyl-β-valienamine on β-glucosidase activity in tissues of normal mice
- Exteroceptive Reflex with Seven Peaks Elicited by Mental Nerve Stimulation in the Unrectified EMG Recordings
- Inhibition of hepatitis C virus replication through adenosine monophosphate-activated protein kinase-dependent and -independent pathways
- Kunihiko Suzuki and sphingolipidoses
- A Case of Serogroup A Meningococcal Meningitis: A Case Possibly Imported from China
- Immunohistochemical Localization of Major Gangliosides in Rat Cerebellum.
- Synthesis of Mordenite Nanocrystals by Using a Hydrophobic Structure-directing Agent