Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene.

Shirafuji, Toshihiko; Shimazaki, Haruo; Miyagi, Tatsuhiro; Ueyama, Takehiko; Adachi, Naoko; Tanaka, Shigeru; Hide, Izumi; Saito, Naoaki; Sakai, Norio

Shirafuji, Toshihiko; Shimazaki, Haruo; Miyagi, Tatsuhiro; Ueyama, Takehiko; Adachi, Naoko; Tanaka, Shigeru; Hide, Izumi; Saito, Naoaki; Sakai, Norio.

Afiliação

Shirafuji T; Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima 734-8551, Japan. Electronic address: sirafuji@hiroshima-u.ac.jp.
Shimazaki H; Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi 329-0498, Japan.
Miyagi T; Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima 734-8551, Japan.
Ueyama T; Laboratory of Molecular Pharmacology, Biosignal Research Center, Kobe University, Kobe 657-8501, Japan.
Adachi N; Laboratory of Molecular Pharmacology, Biosignal Research Center, Kobe University, Kobe 657-8501, Japan.
Tanaka S; Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima 734-8551, Japan.
Hide I; Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima 734-8551, Japan.
Saito N; Laboratory of Molecular Pharmacology, Biosignal Research Center, Kobe University, Kobe 657-8501, Japan.
Sakai N; Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima 734-8551, Japan. Electronic address: nsakai@hiroshima-u.ac.jp.

Mol Cell Neurosci ; 98: 46-53, 2019 07.

Article em En | MEDLINE | ID: mdl-31158466

Assuntos

Códon sem Sentido; Proteína Quinase C/genética; Ataxias Espinocerebelares/genética; Adulto; Animais; Apoptose; Células COS; Linhagem Celular Tumoral; Chlorocebus aethiops; Humanos; Masculino; Proteína Quinase C/metabolismo; Ataxias Espinocerebelares/patologia

Palavras-chave

Dominant negative; Nonsense mutation; PKCÎ³; SCA14

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína Quinase C / Códon sem Sentido / Ataxias Espinocerebelares Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Humans / Male Idioma: En Revista: Mol Cell Neurosci Assunto da revista: BIOLOGIA MOLECULAR / NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article

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