Ken Inoue

Summary

Affiliation: National Institute of Neuroscience
Country: Japan

Publications

  1. ncbi request reprint PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
    Ken Inoue
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    Neurogenetics 6:1-16. 2005
  2. ncbi request reprint [Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders]
    Ken Inoue
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 43:435-42. 2011
  3. doi request reprint Attenuation of endoplasmic reticulum stress in Pelizaeus-Merzbacher disease by an anti-malaria drug, chloroquine
    Toshifumi Morimura
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi machi, Kodaira shi, Tokyo 187 8502, Japan
    Exp Biol Med (Maywood) 239:489-501. 2014
  4. doi request reprint Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies
    Yurika Numata
    National Institute of Neuroscience, National Center for Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo, 187 8502, Japan
    J Neurol 261:752-8. 2014
  5. pmc Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease
    Yurika Numata
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi machi, Kodaira shi, Tokyo 187 8502, Japan
    J Biol Chem 288:7451-66. 2013
  6. doi request reprint Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease
    Li Hua Yu
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan
    Mol Genet Metab 106:108-14. 2012
  7. doi request reprint The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients
    Kaoru Sumida
    Department of Radiology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan Department of Radiology, Graduate School of Medicine and Faculty of Medicine, The University of Tokyo, Bunkyo ku, Tokyo, Japan
    Brain Dev 38:571-80. 2016
  8. pmc Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome
    Keiko Shimojima
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
    Intractable Rare Dis Res 5:214-7. 2016
  9. doi request reprint Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH
    Yukiko Ito
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Ogawahigashi, 4 1 1, Kodaira, Tokyo 187 8502, Japan Department of Molecular Neuroscience, Medical Research Institute, Tokyo Medical and Dental University TMDU, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8510, Japan Electronic address
    Neurobiol Dis 80:1-14. 2015
  10. pmc GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease
    Leo Gotoh
    Department of Mental Retardation and Birth Defects Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Mol Genet Metab 111:393-8. 2014

Collaborators

  • Toshiyuki Yamamoto
  • Muneaki Matsuo
  • G M Hobson
  • James Garbern
  • M E Hodes
  • Yurika Numata
  • Leo Gotoh
  • Jennifer A Lee
  • Toshifumi Morimura
  • Hitoshi Osaka
  • Shoko Nakamura
  • Yu ichi Goto
  • Kaoru Sumida
  • Keiko Shimojima
  • Jun ichi Takanashi
  • Yukiko Ito
  • Akiko Iwaki
  • Kenji Kurosawa
  • James R Lupski
  • Naoko Inoue
  • Eriko Hirano
  • Yu Ich Goto
  • Kimiko Deguchi
  • Li Hua Yu
  • Sau W Cheung
  • Ayako Imai
  • Hirokazu Kurahashi
  • Hiroshi Matsuda
  • Kenji Watanabe
  • Manabu Tanaka
  • Taku Omata
  • Masahiro Kikuchi
  • Motomasa Suzuki
  • Jun Iio
  • Kuniaki Iyoda
  • Masayuki Sasaki
  • Koichi Maruyama
  • Naomichi Matsumoto
  • Toru Kurokawa
  • Tamotu Sato
  • Norihide Maikusa
  • Kenji Yokochi
  • Noriko Sato
  • Masumi Inagaki
  • Yukiko U Inoue
  • Takayoshi Inoue
  • Junko Asami
  • Shinichi Kohsaka
  • Chihiro Akazawa
  • Takahiro Ohkubo
  • Youhei W Terakawa
  • Yoshiki Matsuda
  • Kiran Maski
  • Guy Helman
  • Janet S Soul
  • Miriam Bloom
  • Makoto Urushitani
  • Sara Mora
  • Sarah H Evans
  • Adeline Vanderver
  • Ljubica Caldovic
  • Shigeo Kure
  • Barbara Antalfy
  • Ryoko Yamamoto
  • Carolyn M Ritterson
  • Karen Sperle
  • Pawel Stankiewicz
  • Ricardo E Madrid
  • Chad A Shaw
  • Patricia A Ward

Detail Information

Publications15

  1. ncbi request reprint PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
    Ken Inoue
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    Neurogenetics 6:1-16. 2005
    ..Here, I review the previous and current knowledge of the molecular pathogenesis of PMD/SPG2 and delineate future directions for PMD/SPG2 studies...
  2. ncbi request reprint [Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders]
    Ken Inoue
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 43:435-42. 2011
    ..Here, we review the recent findings on congenital cerebral hypomyelination, which includes 11 diseases, with a novel disease classification and diagnostic criteria with flow charts...
  3. doi request reprint Attenuation of endoplasmic reticulum stress in Pelizaeus-Merzbacher disease by an anti-malaria drug, chloroquine
    Toshifumi Morimura
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi machi, Kodaira shi, Tokyo 187 8502, Japan
    Exp Biol Med (Maywood) 239:489-501. 2014
    ..These findings indicate that chloroquine is an ER stress attenuator with potential use in treating PMD and possibly other ER stress-related diseases...
  4. doi request reprint Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies
    Yurika Numata
    National Institute of Neuroscience, National Center for Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo, 187 8502, Japan
    J Neurol 261:752-8. 2014
    ..Our results constitute the first nationwide survey of congenital hypomyelinating disorders, and provide the epidemiological, clinical, and genetic landscapes of these disorders...
  5. pmc Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease
    Yurika Numata
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi machi, Kodaira shi, Tokyo 187 8502, Japan
    J Biol Chem 288:7451-66. 2013
    ..We propose that depletion of ER chaperones and GA fragmentation induced by mutant misfolded proteins contribute to the pathogenesis of inherited ER stress-related diseases and affect the disease severity...
  6. doi request reprint Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease
    Li Hua Yu
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan
    Mol Genet Metab 106:108-14. 2012
    ..Nonetheless, curcumin may serve as a potential therapeutic compound for PMD caused by PLP1 point mutations...
  7. doi request reprint The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients
    Kaoru Sumida
    Department of Radiology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan Department of Radiology, Graduate School of Medicine and Faculty of Medicine, The University of Tokyo, Bunkyo ku, Tokyo, Japan
    Brain Dev 38:571-80. 2016
    ..We retrospectively evaluated the imaging spectrum of Pelizaeus-Merzbacher disease (PMD) in correlation with the clinical course and genetic abnormality...
  8. pmc Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome
    Keiko Shimojima
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
    Intractable Rare Dis Res 5:214-7. 2016
    ..Genetic analysis revealed two novel SLC16A2 mutations, p.(Gly122Val) and p.(Gly221Ser), confirming the AHDS diagnosis. These results indicate that AHDS diagnosis is sometimes challenging owing to clinical variability among patients. ..
  9. doi request reprint Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH
    Yukiko Ito
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Ogawahigashi, 4 1 1, Kodaira, Tokyo 187 8502, Japan Department of Molecular Neuroscience, Medical Research Institute, Tokyo Medical and Dental University TMDU, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8510, Japan Electronic address
    Neurobiol Dis 80:1-14. 2015
    ..The complex neurological phenotypes in PCWH patients likely result from a combination of haploinsufficiency and additive dominant effect. ..
  10. pmc GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease
    Leo Gotoh
    Department of Mental Retardation and Birth Defects Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Mol Genet Metab 111:393-8. 2014
    ..167G>A) in the promoter region is hypothesized to disrupt a putative SOX10 binding site; however, the lack of additional mutations in this region and contradictory functional data have limited the interpretation of this variant...
  11. ncbi request reprint [Chromosomal abnormalities and genomic disorders]
    Ken Inoue
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP
    Nihon Rinsho 63:64-9. 2005
  12. ncbi request reprint Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
    Jennifer A Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
    Hum Mol Genet 15:2250-65. 2006
    ....
  13. ncbi request reprint Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect
    Jennifer A Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Ann Neurol 59:398-403. 2006
    ..To report an association between spastic paraplegia type 2 with axonal peripheral neuropathy and apparent proteolipid protein gene (PLP1) silencing in a family...
  14. ncbi request reprint Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization
    Jennifer A Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Prenat Diagn 25:1188-91. 2005
    ..To report a family with a history of Pelizaeus-Merzbacher disease (PMD) for which prenatal diagnosis of PLP1 gene duplication status was attempted by the use of custom array comparative genomic hybridization (aCGH)...
  15. pmc Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females
    Ken Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 71:838-53. 2002
    ..In one family, junction sequences revealed a complex recombination event. Our data suggest that PLP1 deletions are likely caused by nonhomologous end joining...