研究活動

研究業績

  • Chorein deficiency promotes ferroptosis.  FEBS Open Bio.,15: 58 – 68, 2025
  • The Role of Chorein Deficiency in Late Spermatogenesis. Biomedicines, 12: 240, 2024
  • Aging-Related Catatonia with Reversible Dopamine Transporter Dysfunction in Females with Depressive Symptoms: A Case Series.,  Am. J. Geriat. Pschiat.,31: 1200 – 1205, 2023
  • Association of auditory Charles Bonnet syndrome with increased blood flow in the nondominant Brodmann area 22. PCN reports2 e92, 2023
  • Vortioxetine as a potential alternative for patients with escitalopram–induced jitteriness/anxiety syndrome: a report of three cases. Psychiatry Clin. Neurosci. Rep., 2: e158, 2023
  • Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia., J Hum Genet. 2021 Jun;66(6): 597 – 606.
  • DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A., J Hum Genet. 2021 Apr;66 (4): 419 – 429.
  • Positional cloning and comprehensive mutation analysis of a Japanese family with lithium-responsive bipolar disorder identifies a novel DOCK5 mutation., J Hum Genet. 2021 Mar;66(3): 243 – 249.
  • Predicting postpartum depression by evaluating temperament during pregnancy. J. Affect. Disord.,292: 720 – 724, 2021
  • Sleep disorders in four patients with myotonic dystrophy type 1. Front. Neurol., 11, 12, eCollection, 2020
  • A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms., Neurosci Res. 2020 Aug; 157: 58 – 63.
  • Working Memory-Related Prefrontal Hemodynamic Responses in University Students: A Correlation Study of Subjective Well-Being and Lifestyle Habits., Front Behav Neurosci. 2019 Sep 13; 13: 213.
  • Novel pathogenic VPS13Agene mutations in Japanese patients with chorea-acanthocytosis., Neurol Genet. 2019 May 1; 5(3) : e332.
  • Novel pathogenic XKmutations in McLeod syndrome and interaction between XK protein and chorein., Neurol Genet. 2019 Apr 22;5(3): e328.
  • Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece., Biochem Biophys Res Commun. 2018 Sep 5;503(2): 915 – 920.
  • Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nat Genet.  50(4): 581 – 590, 2018
  • The effects of olanzapine treatment on brain regional glucose metabolism in neuroleptic-naive first-episode schizophrenic patients. Hum Psychopharmacol. 31(6): 419 – 426, 2016
  • Chorein interacts with α-tubulin and histone deacetylase 6, and overexpression preserves cell viability during nutrient deprivation in human embryonic kidney 293 cells. FASEB J.  30(11): 3726 – 3732, 2016
  • Phenotypic abnormalities in a chorea-acanthocytosis mouse model are modulated by strain background. Biochemical and Biophysical Research Communications, 472(1): 118 – 124, 2016
  • Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin, Biochemical and Biophysical Research Communications, 441(1): 96 – 101, 2013

  • Different clinical phenotypes in siblings with a Presenilin-1 P264L mutation, Dementia and Geriatric Cognitive Disorders, 33 (2-3) 132 – 140, 2012

  • Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cells, Biochemical and Biophysical Research Communications, 419(3): 511 – 516, 2012

  • Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances, Mitochondrion,12 (6)  617 – 622, 2012

  • Quetiapine-induced frequent premature ventricular contraction, General Hospital Psychiatry, 34 (2) 211. e1 – 211.e3, 2012

  • Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree, Journal of Human Genetics ,56 (10):  742 – 747, 2011

  • Familial Semantic Dementia with P301L Mutation in the Tau Gene, Dement. Geriatr. Cogn. Disord., 31: 334 – 340, 2011

  • Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis, American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 156 (5): 620 – 631, 2011

  • Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms, Neurosci. Res., 69: 331 – 336, 2011
  • Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia, Neurosci. Res., 69: 196 – 102, 2011

  • Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case, Psychiatry and Clinical Neurosciences, 65 (1): 105 – 108, 2011

  • Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 delCA and 3970_3973 delAGTC VPS13A mutations, Acta Neuropathol., 119: 271 – 273, 2010
  • Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree, Journal of the Neurological Sciences, 263(1–2): 124 – 132, 2007
  • Differences in two mice strains on kainic acid-induced amygdalar seizures, Biochemical and Biophysical Research Communications, 357(4): 1078 – 1083, 2007
  • Brain-specific transcript variants of 5′ and 3′ ends of mouse VPS13A and VPS13C, Biochemical and Biophysical Research Communications, 353(4): 902 – 907, 2007
  • In vivo distribution and localization of chorein, Biochemical and Biophysical Research Communications, 353(2): 431 – 435, 2007
  • Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor, Biochemical and Biophysical Research Communications, 351(2): 438 – 442, 2006
  • A gene-targeted mouse model for chorea-acanthocytosis, Journal of Neurochemistry, 92(4): 759 – 766, 2005