Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations.

Nazlamova, Liliya; Villa Vasquez, Suly Saray; Lord, Jenny; Karthik, Varshini; Cheung, Man-Kim; Lakowski, Jörn; Wheway, Gabrielle

Nazlamova, Liliya; Villa Vasquez, Suly Saray; Lord, Jenny; Karthik, Varshini; Cheung, Man-Kim; Lakowski, Jörn; Wheway, Gabrielle.

Afiliação

Nazlamova L; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Villa Vasquez SS; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Lord J; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Karthik V; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Cheung MK; Centre for Research in Biosciences, University of the West of England, Bristol, United Kingdom.
Lakowski J; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Wheway G; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

Front Genet ; 13: 1009430, 2022.

Article em En | MEDLINE | ID: mdl-36176300

Palavras-chave

cilia; ciliopathies; photoreceptor; pre-mRNA splicing; retinitis pigmentosa

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Suíça

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