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

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 Ca2+-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 causi...

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Bibliographic Details
Main Authors: Andrea Milenkovic, Denise Schmied, Naoyuki Tanimoto, Mathias W. Seeliger, Janet R. Sparrow, Bernhard H. F. Weber
Format: Article
Language:English
Published: The Company of Biologists 2019-07-01
Series:Biology Open
Subjects:
Bestrophin-1
BEST1
Vitelliform macular dystrophy
Protein stability
Sperm motility
Best1Y227N knock-in mouse
Online Access:http://bio.biologists.org/content/8/7/bio041335

Internet

http://bio.biologists.org/content/8/7/bio041335

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