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A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Zhang, Shaochuan; Ohkawara, Bisei; Ito, Mikako; Huang, Zhizhou; Zhao, Fei; Nakata, Tomohiko; Takeuchi, Tomoya; Sakurai, Hidetoshi; Komaki, Hirofumi; Kamon, Masayoshi; Araki, Toshiyuki; Ohno, Kinji.
Afiliación
  • Zhang S; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
  • Ohkawara B; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
  • Ito M; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
  • Huang Z; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
  • Zhao F; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
  • Nakata T; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
  • Takeuchi T; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
  • Sakurai H; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto 606-8507, Japan.
  • Komaki H; Department of Pediatrics, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan.
  • Kamon M; Department of Peripheral Nervous System Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan.
  • Araki T; Department of Peripheral Nervous System Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan.
  • Ohno K; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
Hum Mol Genet ; 32(9): 1511-1523, 2023 04 20.
Article en En | MEDLINE | ID: mdl-36579833
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndromes Miasténicos Congénitos / Células Madre Pluripotentes Inducidas Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndromes Miasténicos Congénitos / Células Madre Pluripotentes Inducidas Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Japón