Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.

Murayama, Takashi; Kurebayashi, Nagomi; Ogawa, Haruo; Yamazawa, Toshiko; Oyamada, Hideto; Suzuki, Junji; Kanemaru, Kazunori; Oguchi, Katsuji; Iino, Masamitsu; Sakurai, Takashi

Murayama, Takashi; Kurebayashi, Nagomi; Ogawa, Haruo; Yamazawa, Toshiko; Oyamada, Hideto; Suzuki, Junji; Kanemaru, Kazunori; Oguchi, Katsuji; Iino, Masamitsu; Sakurai, Takashi.

Afiliação

Murayama T; Department of Cellular and Molecular Pharmacology, Juntendo University Graduate School of Medicine, Tokyo, Japan. takashim@juntendo.ac.jp.
Kurebayashi N; Department of Cellular and Molecular Pharmacology, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Ogawa H; Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan.
Yamazawa T; Department of Molecular Physiology, Jikei University School of Medicine, Tokyo, Japan.
Oyamada H; Department of Pharmacology, School of Medicine, Showa University, Tokyo, Japan.
Suzuki J; Department of Pharmacology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Kanemaru K; Department of Pharmacology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Oguchi K; Department of Pharmacology, School of Medicine, Showa University, Tokyo, Japan.
Iino M; Department of Pharmacology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Sakurai T; Department of Cellular and Molecular Pharmacology, Juntendo University Graduate School of Medicine, Tokyo, Japan.

Hum Mutat ; 37(11): 1231-1241, 2016 11.

Article em En | MEDLINE | ID: mdl-27586648

Assuntos

Cálcio/metabolismo; Hipertermia Maligna/genética; Mutação; Miopatia da Parte Central/genética; Canal de Liberação de Cálcio do Receptor de Rianodina/genética; Canal de Liberação de Cálcio do Receptor de Rianodina/metabolismo; Retículo Endoplasmático/metabolismo; Predisposição Genética para Doença; Células HEK293; Humanos; Hipertermia Maligna/metabolismo; Modelos Moleculares; Miopatia da Parte Central/metabolismo; Estrutura Secundária de Proteína; Canal de Liberação de Cálcio do Receptor de Rianodina/química; Retículo Sarcoplasmático/metabolismo

Palavras-chave

calcium release channel; calcium-induced calcium release; central core disease; genotype-phenotype correlation; malignant hyperthermia; muscle disease; ryanodine receptor; sarcoplasmic reticulum; skeletal muscle

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cálcio / Canal de Liberação de Cálcio do Receptor de Rianodina / Miopatia da Parte Central / Hipertermia Maligna / Mutação Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google