The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy

Human bestrophin-1 (BEST1) is an integral membrane protein known to function as a Ca(2+)-activated and volume-regulated chloride channel. The majority of disease-associated mutations in BEST1 constitute missense mutations and were shown in vitro to lead to a reduction in mutant protein half-life cau...

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Detalles Bibliográficos
Autores principales: Milenkovic, Andrea, Schmied, Denise, Tanimoto, Naoyuki, Seeliger, Mathias W., Sparrow, Janet R., Weber, Bernhard H. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679414/
https://www.ncbi.nlm.nih.gov/pubmed/31201163
http://dx.doi.org/10.1242/bio.041335

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679414/
https://www.ncbi.nlm.nih.gov/pubmed/31201163
http://dx.doi.org/10.1242/bio.041335

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