LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity.

Yamashita, Yoshihiro; Matsuura, Tohru; Kurosaki, Tatsuaki; Amakusa, Yoshinobu; Kinoshita, Masanobu; Ibi, Tohru; Sahashi, Ko; Ohno, Kinji

Yamashita, Yoshihiro; Matsuura, Tohru; Kurosaki, Tatsuaki; Amakusa, Yoshinobu; Kinoshita, Masanobu; Ibi, Tohru; Sahashi, Ko; Ohno, Kinji.

Afiliação

Yamashita Y; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Matsuura T; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan; Division of Neurology, Department of Medicine, Jichi Medical University, Shomotsuke, Japan. Electronic address: tohrum@jichi.ac.jp.
Kurosaki T; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Amakusa Y; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Kinoshita M; Department of Frontier Health Sciences, Graduate School of Human Health Sciences, Tokyo Metropolitan University, Tokyo, Japan.
Ibi T; Department of Neurology, Aichi Medical University School of Medicine, Aichi, Japan.
Sahashi K; Department of Neurology, Aichi Medical University School of Medicine, Aichi, Japan.
Ohno K; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Neurobiol Dis ; 69: 200-5, 2014 Sep.

Article em En | MEDLINE | ID: mdl-24878509

Assuntos

Proteínas Adaptadoras de Transdução de Sinal/genética; Proteínas Adaptadoras de Transdução de Sinal/metabolismo; Proteínas com Domínio LIM/genética; Proteínas com Domínio LIM/metabolismo; Músculo Esquelético/metabolismo; Distrofia Miotônica/genética; Distrofia Miotônica/metabolismo; Proteína Quinase C/metabolismo; Adulto; Idoso; Criança; Estudos de Coortes; Éxons; Feminino; Humanos; Lactente; Isoenzimas; Masculino; Pessoa de Meia-Idade; Doenças Musculares/genética; Doenças Musculares/metabolismo; Isoformas de Proteínas; Splicing de RNA; Transfecção; Expansão das Repetições de Trinucleotídeos; Adulto Jovem

Palavras-chave

CUG triplet repeat RNA-binding protein; LIM domain binding 3; Muscleblind-like 1; Myotonic dystrophy type 1; Protein kinase C

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína Quinase C / Músculo Esquelético / Proteínas Adaptadoras de Transdução de Sinal / Proteínas com Domínio LIM / Distrofia Miotônica Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adult / Aged / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Neurobiol Dis Assunto da revista: NEUROLOGIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Japão

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