PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation

Author:

Aweidah Hamzah,Xi Zhouhuan,Sahel José-Alain,Byrne Leah C.ORCID

Funder

National Institutes of Health

Eye and Ear Foundation of Pittsburgh

Research to Prevent Blindness

Publisher

Elsevier BV

Subject

Sensory Systems,Ophthalmology

Reference147 articles.

1. A large deletion in the adRP gene PRPF31: Evidence that haploinsufficiency is the cause of disease;Abu-Safieh;Molecular Vision,2006

2. Rod-derived cone viability factor promotes cone survival by stimulating aerobic glycolysis;Ait-Ali;Cell,2015

3. Energy metabolism of rabbit retina as related to function: High cost of Na+ transport;Ames;The Journal of Neuroscience,1992

4. The yeast Prp3 protein is a U4/U6 snRNP protein necessary for integrity of the U4/U6 snRNP and the U4/U6.U5 tri-snRNP;Anthony;RNA,1997

5. Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports;Audo;BMC Medical Genetics,2010

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