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.

Afiliación

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 en En | MEDLINE | ID: mdl-24878509

Asunto(s)

Proteínas Adaptadoras Transductoras de Señales/genética; Proteínas Adaptadoras Transductoras de Señales/metabolismo; Proteínas con Dominio LIM/genética; Proteínas con Dominio LIM/metabolismo; Músculo Esquelético/metabolismo; Distrofia Miotónica/genética; Distrofia Miotónica/metabolismo; Proteína Quinasa C/metabolismo; Adulto; Anciano; Niño; Estudios de Cohortes; Exones; Femenino; Humanos; Lactante; Isoenzimas; Masculino; Persona de Mediana Edad; Enfermedades Musculares/genética; Enfermedades Musculares/metabolismo; Isoformas de Proteínas; Empalme del ARN; Transfección; Expansión de Repetición de Trinucleótido; Adulto Joven

Palabras clave

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 Bases de datos: MEDLINE Asunto principal: Proteína Quinasa C / Músculo Esquelético / Proteínas Adaptadoras Transductoras de Señales / Proteínas con Dominio LIM / Distrofia Miotónica Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adult / Aged / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Neurobiol Dis Asunto de la revista: NEUROLOGIA Año: 2014 Tipo del documento: Article País de afiliación: Japón

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