A5013346207- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Amino Acid Enzymes and Metabolism
- RNA modifications and cancer
- ATP Synthase and ATPases Research
- Diet and metabolism studies
- Muscle metabolism and nutrition
- RNA Research and Splicing
- Ubiquitin and proteasome pathways
- Folate and B Vitamins Research
- RNA and protein synthesis mechanisms
- Genomic variations and chromosomal abnormalities
- Cancer-related molecular mechanisms research
- Retinoids in leukemia and cellular processes
- Biochemical and Molecular Research
- Congenital heart defects research
- Diabetes and associated disorders
- Attention Deficit Hyperactivity Disorder
- Coenzyme Q10 studies and effects
- Vascular Tumors and Angiosarcomas
- Congenital Diaphragmatic Hernia Studies
- Parkinson's Disease Mechanisms and Treatments
- Vascular Malformations and Hemangiomas
Tokyo Metropolitan Institute of Medical Science
2020-2025
Kanagawa Children's Medical Center
2014-2024
Tokyo Metropolitan Children's Medical Center
2024
RELX Group (United States)
2012
RELX Group (United Kingdom)
2012
Mitochondrial dysfunction increases oxidative stress and depletes ATP in a variety of disorders. Several antioxidant therapies drugs affecting mitochondrial biogenesis are undergoing investigation, although not all them have demonstrated favorable effects the clinic. We recently reported therapeutic drug mitochonic acid MA-5 (Tohoku J. Exp. Med., 2015). increased ATP, rescued disease fibroblasts prolonged life span model "Mitomouse" (JASN, 2016). To investigate potential on various diseases,...
Abstract Background Glucose is a main energy source to support healthy brain function. transporter-1 (GLUT1) the most important transport protein that transports glucose from blood parenchyma and reported be expressed mainly in vascular endothelial cells astrocyte endfeet. GLUT1 deficiency syndrome (GLUT1-DS) metabolic encephalopathy caused by impaired into brain. GLUT1-DS congenital disorder heterozygous de novo mutations gene (SLC2A1) have been found majority of patients with GLUT1-DS,...
Mitochondria are key organelles implicated in a variety of processes related to energy and free radical generation, the regulation apoptosis, various signaling pathways. Mitochondrial dysfunction increases cellular oxidative stress depletes ATP inherited mitochondrial diseases also many other metabolic neurodegenerative diseases. characterized by respiratory chain, caused mutations genes encoded either nuclear DNA or DNA. We have hypothesized that chemicals increase levels may ameliorate...
Conventional PCR-based direct sequencing of candidate genes for a family with X-linked leucoencephalopathy unknown aetiology failed to identify any causative mutations.To carry out exome entire transcripts the whole X chromosome investigate linked leucoencephalopathy.Next-generation all chromosome, after liquid-based genome partitioning, was performed on one two affected male subjects (the proband) and an unaffected subject (his brother). A nonsense mutation in MCT8 (c.1102A→T (p.R368X))...
High-sugar diet in adolescence induces neural angiopathy and multiple psychiatric endophenotypes with impaired glucose logistics.
Mutations in the gap junction protein gamma-2 gene, GJC2, cause a central hypomyelinating disorder; Pelizaeus-Merzbacher-like disease (PMLD; MIM311601). Using homozygosity mapping and positional candidate gene approach, we identified homozygous mutation (c.-167A>G) within GJC2 promoter at potent SOX10 binding site patient with mild PMLD. Functionally, this completely abolished attenuated activity. These findings suggest not only that SOX10-to-GJC2 transcriptional dysregulation is of PMLD,...
Approximately 80% of cases mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harbor a heteroplasmic m.3243A>G transition in the tRNALeu (UUR) (MTTL1) gene. We report MELAS case with rare m.3243A>T mutation found by direct sequencing MTTL1. This has been previously reported 5 cases, which 2 had phenotype. Our also strengthens hypothesis that can cause
Abstract Background Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability ( ID ), neurodevelopmental delay, language growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with microdeletion have been reported in the literature. Methods Molecular analysis was performed using microarray‐based comparative genomic hybridization (array CGH ). Clinical characteristics magnetic resonance...
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare disorder of creatine synthesis resulting in cerebral depletion. We present 38-year-old patient, the first Japanese case GAMT deficiency. Developmental delay started after few months age with marked language, which resulted severe intellectual deficit. She showed hyperactivity and trichotillomania from childhood. Epileptic seizures appeared at 18 she had multiple types including epileptic spasms, brief tonic seizures, atypical...