A5076883221- Genetic Neurodegenerative Diseases
- Analytical Chemistry and Chromatography
- Blood groups and transfusion
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Erythrocyte Function and Pathophysiology
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Amino Acid Enzymes and Metabolism
- Neurological and metabolic disorders
- Vascular anomalies and interventions
- Neurological diseases and metabolism
- Neurological disorders and treatments
- Glycogen Storage Diseases and Myoclonus
- Cellular transport and secretion
- Molecular Sensors and Ion Detection
- RNA modifications and cancer
- Glycosylation and Glycoproteins Research
- Lipid Membrane Structure and Behavior
- Polyamine Metabolism and Applications
- RNA Research and Splicing
- Synthesis and Biological Evaluation
- Medical Imaging and Pathology Studies
- Lung Cancer Diagnosis and Treatment
- Bipolar Disorder and Treatment
Kagoshima University
2013-2024
Hokkaido University
2019
Kyushu University
2019
Nagano Matsushiro General Hospital
2019
Fukushima Medical University
2019
Iwate Medical University
2019
Kansai Medical University
2011-2019
Nakamura Memorial Hospital
2019
Meidensha (Japan)
2016-2017
Kyoto University
2015
Article abstract-Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease with variable clinical phenotypes. Progressive ataxia, choreoathetosis, and dementia are the main features of adult-onset cases, whereas feature in juvenile-onset DRPLA progressive myoclonus epilepsy. Earlier onset apparent successive generations (anticipation). The molecular abnormality underlying expanded, unstable CAG trinucleotide repeat on chromosome 12p. We...
Dentatorubral-pallidoluysian atrophy (DRPLA) is one among an increasing number of hereditary neurodegenerative diseases determined as being caused by unstable expansion CAG repeats coding for polyglutamine stretches. To investigate the molecular mechanisms underlying repeat instability, we established three transgenic lines each harboring a single copy full-length human mutant DRPLA gene carrying expansion. These mice exhibited age-dependent increase (+0.31 per year) in male transmission and...
Abstract: Prosaposin, a multifunctional protein, is the precursor of saposins, which activate sphingolipid hydrolases. In addition to acting as for prosaposin has been shown rescue hippocampal CA1 neurons from lethal ischemic damage in vivo and promote neurite extension neuroblastoma cells vitro. Here we show that prosaposin, when added collagen‐filled nerve guide after sciatic transection guinea pigs, increased dramatically number regenerating fibers within guide. To identify target during...
Abstract: Prosaposin, a 517‐amino‐acid glycoprotein, not only acts as the precursor of saposin A, B, C, and D but also possesses neurotrophic activity to rescue hippocampal CA1 neurons from ischemic damage in vivo promote neurite extension neuroblastoma cells vitro. Recently, trophic prosaposin on human has been shown reside NH 2 ‐terminal hydrophilic sequence (LIDNNRTEEILY) C. Here we show that prosaposin, peptide comprising 18‐amino‐acid (18‐mer peptide; LSELIINNATEELLIKGL) located rat...
Abstract Recent researches have suggested that brain‐derived neurotrophic factor (BDNF) may be implicated in the pathophysiology of mood disorder. This study examined association between BDNF Val66Met polymorphism and major depressive disorder (MDD) a Japanese population. We genotyped 154 patients age‐ sex‐matched control subjects. The genotypic distributions allele frequencies were similar among When relationships with several clinical variables (i.e., age, sex, age onset, number episode,...
The pathophysiology of neuroleptic malignant syndrome is mainly explained by a central hypodopaminergic state. familial occurrence suggests the involvement genetic mechanism in predisposition to syndrome. Therefore, authors examined association between TaqI A polymorphism dopamine D(2) receptor gene (DRD(2)), which alters DRD(2) density and function, development syndrome.The subjects were 15 psychiatric patients who had developed (12 with schizophrenia three major depression) 138 never...
Abstract AKT‐glycogen synthase kinase 3β (GSK3β) signaling is a target of lithium and has been implicated in the pathogenesis mood disorders schizophrenia. AKT1 protein level decreased peripheral lymphocytes brains schizophrenic patients. The SNP2/3/4 TCG haplotype was associated with schizophrenia patients Northern European origin. In present study, we genotyped five single nucleotide polymorphisms (SNP1–5) gene according to original study Iranians comprising 321 383 controls, all residing...
Abstract Chorea‐acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by loss of function mutations in the vacuolar protein sorting 13 homolog A ( VPS13A ) gene that encodes chorein. It characterized adult‐onset chorea, peripheral acanthocytes, and neuropsychiatric symptoms. In present study, we performed comprehensive mutation screen, including sequencing copy number variation (CNV) analysis, ChAc patients. All 73 exons flanking regions were sequenced 35...