The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6-Reference-Cited by-同舟云学术

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6

Published:2017-08-26 Issue:22 Volume:26 Page:4465-4480
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Sacristan-Reviriego Almudena¹,Bellingham James¹,Prodromou Chrisostomos²,Boehm Annika N³,Aichem Annette³,Kumaran Neruban¹,Bainbridge James¹,Michaelides Michel¹,van der Spuy Jacqueline¹

Affiliation:

1. UCL Institute of Ophthalmology, London EC1V 9EL, UK

2. Genome Damage and Stability Centre, University of Sussex, Brighton, East Sussex BN1 9RQ, UK

3. Biotechnology Institute Thurgau, University of Konstanz, Kreuzlingen, Switzerland

Funder

Rosetrees Trust

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/26/22/4465/24339420/ddx334.pdf

Reference48 articles.

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2. Leber congenital amaurosis: genes, proteins and disease mechanisms;den Hollander;Prog. Retin. Eye Res,2008

3. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis;Sohocki;Nat. Gen,2000

4. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations;Dharmaraj;Arch. Ophthalmol,2004

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