Article
Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.
Cellular and molecular life sciences : CMLS - 19 Jul 2023
Ikelle Larissa, Makia Mustafa, Lewis Tylor, Crane Ryan, Kakakhel Mashal, Conley Shannon M, Birtley James R, Arshavsky Vadim Y, Al-Ubaidi Muayyad R, Naash Muna I
Abstract excerpt
Mutations in the photoreceptor-specific tetraspanin gene peripherin-2 (PRPH2) lead to widely varying forms of retinal degeneration ranging from retinitis pigmentosa to macular dystrophy. Both inter- and intra-familial phenotypic heterogeneity has led to much interest in uncovering the complex pathogenic mechanisms of PRPH2-associated disease. Majority of disease-causing mutations in PRPH2 reside in the second...
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