Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis.

Yanagida, Keisuke; Masago, Kayo; Yasuda, Daisuke; Hamano, Fumie; Kurikawa, Yoshitaka; Shimizu, Takao; Ishii, Satoshi

Yanagida, Keisuke; Masago, Kayo; Yasuda, Daisuke; Hamano, Fumie; Kurikawa, Yoshitaka; Shimizu, Takao; Ishii, Satoshi.

Afiliação

Yanagida K; Department of Lipid Life Science, National Center for Global Health and Medicine, Tokyo, Japan.
Masago K; Department of Anesthesiology, Tokyo-Kita Medical Center, Tokyo, Japan.
Yasuda D; Department of Immunology, Akita University Graduate School of Medicine, Akita, Japan.
Hamano F; Life Sciences Core Facility, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Kurikawa Y; Department of Biochemistry and Molecular Biology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Shimizu T; Department of Lipid Life Science, National Center for Global Health and Medicine, Tokyo, Japan.
Ishii S; Department of Immunology, Akita University Graduate School of Medicine, Akita, Japan.

Hum Mol Genet ; 32(5): 825-834, 2023 02 19.

Article em En | MEDLINE | ID: mdl-36173926

Assuntos

Doenças do Cabelo; Hipotricose; Humanos; Hipotricose/genética; Cabelo; Doenças do Cabelo/genética; Mutação; Genes Recessivos

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Cabelo / Hipotricose Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão

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