Ontology highlight
ABSTRACT:
SUBMITTER: Zhang L
PROVIDER: S-EPMC5127684 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Zhang Lijuan L Du Jianhai J Justus Sally S Hsu Chun-Wei CW Bonet-Ponce Luis L Wu Wen-Hsuan WH Tsai Yi-Ting YT Wu Wei-Pu WP Jia Yading Y Duong Jimmy K JK Mahajan Vinit B VB Lin Chyuan-Sheng CS Wang Shuang S Hurley James B JB Tsang Stephen H SH
The Journal of clinical investigation 20161114 12
Retinitis pigmentosa (RP) encompasses a diverse group of Mendelian disorders leading to progressive degeneration of rods and then cones. For reasons that remain unclear, diseased RP photoreceptors begin to deteriorate, eventually leading to cell death and, consequently, loss of vision. Here, we have hypothesized that RP associated with mutations in phosphodiesterase-6 (PDE6) provokes a metabolic aberration in rod cells that promotes the pathological consequences of elevated cGMP and Ca2+, which ...[more]