The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.

Tebbe, Lars; Mwoyosvi, Maggie L; Crane, Ryan; Makia, Mustafa S; Kakakhel, Mashal; Cosgrove, Dominic; Al-Ubaidi, Muayyad R; Naash, Muna I

Tebbe, Lars; Mwoyosvi, Maggie L; Crane, Ryan; Makia, Mustafa S; Kakakhel, Mashal; Cosgrove, Dominic; Al-Ubaidi, Muayyad R; Naash, Muna I.

Afiliación

Tebbe L; Department of Biomedical Engineering, University of Houston, Houston, TX, 77204, USA.
Mwoyosvi ML; Department of Biomedical Engineering, University of Houston, Houston, TX, 77204, USA.
Crane R; Department of Microbiology & Immunology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.
Makia MS; Department of Biomedical Engineering, University of Houston, Houston, TX, 77204, USA.
Kakakhel M; Department of Biomedical Engineering, University of Houston, Houston, TX, 77204, USA.
Cosgrove D; Department of Biomedical Engineering, University of Houston, Houston, TX, 77204, USA.
Al-Ubaidi MR; Boys Town National Research Hospital, Omaha, NE, USA.
Naash MI; Department of Biomedical Engineering, University of Houston, Houston, TX, 77204, USA. malubaid@central.uh.edu.

Nat Commun ; 14(1): 972, 2023 02 21.

Article en En | MEDLINE | ID: mdl-36810733

Asunto(s)

Proteínas de la Matriz Extracelular; Proteínas de la Membrana; Síndromes de Usher; Animales; Humanos; Ratones; Proteínas de la Matriz Extracelular/genética; Proteínas de la Membrana/metabolismo; Ratones Noqueados; Mutación; Síndromes de Usher/genética

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de la Matriz Extracelular / Síndromes de Usher / Proteínas de la Membrana Límite: Animals / Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos

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