Diverse dystonin gene mutations cause distinct patterns of <i>Dst</i> isoform deficiency and phenotypic heterogeneity in <i>Dystonia musculorum</i> mice.

Yoshioka, Nozomu; Kabata, Yudai; Kuriyama, Momona; Bizen, Norihisa; Zhou, Li; Tran, Dang M; Yano, Masato; Yoshiki, Atsushi; Ushiki, Tatsuo; Sproule, Thomas J; Abe, Riichiro; Takebayashi, Hirohide

Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice.

Yoshioka, Nozomu; Kabata, Yudai; Kuriyama, Momona; Bizen, Norihisa; Zhou, Li; Tran, Dang M; Yano, Masato; Yoshiki, Atsushi; Ushiki, Tatsuo; Sproule, Thomas J; Abe, Riichiro; Takebayashi, Hirohide.

Afiliação

Yoshioka N; Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan.
Kabata Y; Transdiciplinary Research Programs, Niigata University, Niigata 950-2181, Japan.
Kuriyama M; Division of Dermatology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan.
Bizen N; Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan.
Zhou L; Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan.
Tran DM; Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan.
Yano M; Center for Coordination of Research Facilities, Niigata University, Niigata 951-8510, Japan.
Yoshiki A; Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan.
Ushiki T; Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan.
Sproule TJ; RIKEN BioResource Research Center, Tsukuba 305-0074, Japan.
Abe R; Division of Microscopic Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan.
Takebayashi H; The Jackson Laboratory, Bar Harbor, ME 04609, USA.

Dis Model Mech ; 13(5)2020 05 21.

Article em En | MEDLINE | ID: mdl-32482619

Assuntos

Distúrbios Distônicos/genética; Distonina/genética; Mutação/genética; Isoformas de Proteínas/genética; Animais; Desmossomos/metabolismo; Desmossomos/ultraestrutura; Modelos Animais de Doenças; Distonina/metabolismo; Regulação da Expressão Gênica; Homozigoto; Camundongos; Neurônios/patologia; Fenótipo; RNA Mensageiro/genética; RNA Mensageiro/metabolismo; Pele/patologia

Palavras-chave

Dystonia musculorum mice; Dystonin/Bpag1; Hemidesmosome; Neuropathy

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Isoformas de Proteínas / Distúrbios Distônicos / Distonina / Mutação Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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