Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration-Reference-Cited by-同舟云学术

Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration

Published:2017-11-14 Issue:2 Volume:27 Page:295-306
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Molday Laurie L¹,Wahl Daniel²,Sarunic Marinko V²,Molday Robert S¹³

Affiliation:

1. Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, BC, Canada V6T 1Z3

2. School of Engineering Science, Simon Fraser University, Burnaby, BC, Canada V5A 1S6

3. Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, BC, Canada V5Z 3N9

Funder

National Institutes of Health

Canadian Institutes of Health Research

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/27/2/295/24325667/ddx400.pdf

Reference61 articles.

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2. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy;Allikmets;Nat. Genet,1997

3. Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease;Nasonkin;Hum. Genet,1998

4. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily;Illing;J. Biol. Chem,1997

5. Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation;Kang Derwent;Invest. Ophthalmol. Vis. Sci,2004

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