BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes-Reference-Cited by-同舟云学术

BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes

Published:2018-02-23 Issue:9 Volume:27 Page:1630-1641
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Milenkovic Andrea¹,Milenkovic Vladimir M²,Wetzel Christian H²,Weber Bernhard H F¹^ORCID

Affiliation:

1. Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany

2. Department of Psychiatry and Psychotherapy, Molecular Neurosciences, University of Regensburg, 93053 Regensburg, Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/9/1630/24575675/ddy070.pdf

Reference57 articles.

1. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease);Marquardt;Hum. Mol. Genet,1998

2. Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family;Stohr;Eur. J. Hum. Genet.,2002

3. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium;Marmorstein;Proc. Natl. Acad. Sci. U.S.A,2000

4. Structure and insights into the function of a Ca(2+)-activated Cl(-) channel;Kane Dickson;Nature,2014

5. Structure and selectivity in bestrophin ion channels;Yang;Science (New York, N.Y.),2014

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