Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane

PURPOSE: Mutations of clarin 1 (CLRN1) cause Usher syndrome type 3 (USH3). To determine the effects of USH3 mutations on CLRN1 function, we examined the cellular distribution and stability of both normal and mutant CLRN1 in vitro. We also searched for novel disease-causing mutations in a cohort of 5...

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Detalles Bibliográficos
Autores principales: Isosomppi, Juha, Västinsalo, Hanna, Geller, Scott F., Heon, Elise, Flannery, John G., Sankila, Eeva-Marja
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742642/
https://www.ncbi.nlm.nih.gov/pubmed/19753315

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742642/
https://www.ncbi.nlm.nih.gov/pubmed/19753315

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