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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
Aoto, Kazushi; Kato, Mitsuhiro; Akita, Tenpei; Nakashima, Mitsuko; Mutoh, Hiroki; Akasaka, Noriyuki; Tohyama, Jun; Nomura, Yoshiko; Hoshino, Kyoko; Ago, Yasuhiko; Tanaka, Ryuta; Epstein, Orna; Ben-Haim, Revital; Heyman, Eli; Miyazaki, Takehiro; Belal, Hazrat; Takabayashi, Shuji; Ohba, Chihiro; Takata, Atsushi; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Fukuda, Atsuo; Matsumoto, Naomichi; Saitsu, Hirotomo.
Afiliación
  • Aoto K; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. kaz@hama-med.ac.jp.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
  • Akita T; Department of Neurophysiology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Mutoh H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Akasaka N; Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan.
  • Tohyama J; Department of Pediatrics, Niigata Prefecture Hamagumi Medical Rehabilitation Center for Disabled Children, Niigata, Japan.
  • Nomura Y; Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan.
  • Hoshino K; Segawa Neurological Clinic for Children, Tokyo, Japan.
  • Ago Y; Yoshiko Nomura Neurological Clinic for Children, Tokyo, Japan.
  • Tanaka R; Segawa Neurological Clinic for Children, Tokyo, Japan.
  • Epstein O; Segawa Memorial Neurological Clinic for Children, Tokyo, Japan.
  • Ben-Haim R; Department of Neonatology, Ibaraki Children's Hospital, Mito, Japan.
  • Heyman E; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Miyazaki T; Ibaraki Pediatric Education and Training Station, University of Tsukuba, Mito, Japan.
  • Belal H; Pediatric Neurology and Development Center, Shamir Medical Center, Tzrifin, Beer Yaakov, Israel.
  • Takabayashi S; Pediatric Neurology and Development Center, Shamir Medical Center, Tzrifin, Beer Yaakov, Israel.
  • Ohba C; Pediatric Neurology and Development Center, Shamir Medical Center, Tzrifin, Beer Yaakov, Israel.
  • Takata A; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Mizuguchi T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Miyatake S; Laboratory Animal Facilities & Services, Preeminent Medical Photonics Education & Research Center, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Fukuda A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nat Commun ; 12(1): 2107, 2021 04 08.
Article en En | MEDLINE | ID: mdl-33833240
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Encefalopatías / Neurotransmisores / ATPasas de Translocación de Protón Vacuolares / Neuronas Límite: Animals / Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2021 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Encefalopatías / Neurotransmisores / ATPasas de Translocación de Protón Vacuolares / Neuronas Límite: Animals / Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2021 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido