CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability-Reference-Cited by-同舟云学术

CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability

Published:2016-09-20 Issue:1 Volume:6 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Minegishi Yuriko,Sheng XunLun,Yoshitake Kazutoshi,Sergeev Yuri,Iejima Daisuke,Shibagaki Yoshio,Monma Norikazu,Ikeo Kazuho,Furuno Masaaki,Zhuang Wenjun,Liu Yani,Rong Weining,Hattori Seisuke,Iwata Takeshi

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep33742.pdf

Reference53 articles.

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2. Koenekoop, R. K. An overview of Leber congenital amaurosis: a model to understand human retinal development. Surv Ophthalmol 49, 379–398, doi: 10.1016/j.survophthal.2004.04.003 (2004).

3. Khan, A. O., Abu-Safieh, L., Eisenberger, T., Bolz, H. J. & Alkuraya, F. S. The RPGRIP1-related retinal phenotype in children. Br J Ophthalmol 97, 760–764, doi: 10.1136/bjophthalmol-2012-303050 (2013).

4. Perrault, I. et al. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat 28, 416, doi: 10.1002/humu.9485 (2007).

5. Khan, A. O., Al-Mesfer, S., Al-Turkmani, S., Bergmann, C. & Bolz, H. J. Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. Br J Ophthalmol 98, 1724–1728, doi: 10.1136/bjophthalmol-2014-305122 (2014).

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3. Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans;Communications Biology;2023-08-29

4. Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins;Frontiers in Cell and Developmental Biology;2023-06-22

5. The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis;Journal of Ophthalmic and Vision Research;2023-02-13