Ultrastructural Localization of GPR179 and the Impact of Mutant Forms on Retinal Function in CSNB1 Patients and a Mouse Model | Zendy

Jan Klooster | Zendy; Maria M. van Genderen | Zendy; Minzhong Yu | Zendy; Ralph J. Florijn | Zendy; Frans C. C. Riemslag | Zendy; Arthur A. Bergen | Zendy; Ronald G. Gregg | Zendy; Neal S. Peachey | Zendy; Maarten Kamermans | Zendy

Open Access

Ultrastructural Localization of GPR179 and the Impact of Mutant Forms on Retinal Function in CSNB1 Patients and a Mouse Model

Author(s) -

Jan Klooster,

Maria M. van Genderen,

Minzhong Yu,

Ralph J. Florijn,

Frans C. C. Riemslag,

Arthur A. Bergen,

Ronald G. Gregg,

Neal S. Peachey,

Maarten Kamermans

Publication year - 2013

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.13-12293

Subject(s) - erg , retina , biology , retinal , electroretinography , retinal degeneration , ultrastructure , retinal disorder , microbiology and biotechnology , anatomy , genetics , neuroscience , biochemistry

Complete congenital stationary night blindness (CSNB1) is characterized by loss of night vision due to a defect in the retinal ON-bipolar cells (BCs). Mutations in GPR179, encoding the G-protein-coupled receptor 179, have been found in CSNB1 patients. In the mouse, GPR179 is localized to the tips of ON-BC dendrites. In this study we determined the ultrastructural localization of GPR179 in human retina and determined the functional consequences of mutations in GPR179 in patients and mice.

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