Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.

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Title: Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
Authors: Eblimit A; HGSC, Department of Molecular and Human Genetics., Nguyen TM; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525, The Netherlands., Chen Y; HGSC, Department of Molecular and Human Genetics., Esteve-Rudd J; Jules Stein Eye Institute, UCLA David Geffen School of Medicine, Los Angeles, CA 90095, USA., Zhong H; Department of Pathology and Immunology., Letteboer S; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525, The Netherlands., Van Reeuwijk J; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525, The Netherlands., Simons DL; Department of Neuroscience and Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USA., Ding Q; Department of Ophthalmology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA., Wu KM; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525, The Netherlands., Li Y; HGSC, Department of Molecular and Human Genetics., Van Beersum S; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525, The Netherlands., Moayedi Y; Department of Neuroscience and., Xu H; HGSC, Department of Molecular and Human Genetics., Pickard P; HGSC, Department of Molecular and Human Genetics., Wang K; HGSC, Department of Molecular and Human Genetics., Gan L; Department of Ophthalmology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA., Wu SM; Department of Neuroscience and Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USA., Williams DS; Jules Stein Eye Institute, UCLA David Geffen School of Medicine, Los Angeles, CA 90095, USA., Mardon G; Department of Molecular and Human Genetics, Department of Pathology and Immunology, Department of Neuroscience and Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USA, ruichen@bcm.edu roepman@radboudumc.nl gmardon@bcm.edu., Roepman R; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525, The Netherlands, ruichen@bcm.edu roepman@radboudumc.nl gmardon@bcm.edu., Chen R; HGSC, Department of Molecular and Human Genetics, ruichen@bcm.edu roepman@radboudumc.nl gmardon@bcm.edu.
Source: Human molecular genetics [Hum Mol Genet] 2015 Mar 15; Vol. 24 (6), pp. 1584-601. Date of Electronic Publication: 2014 Nov 14.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1460-2083
DOI:10.1093/hmg/ddu573