Article
A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration.
Human molecular genetics - 5 Nov 2024
Cavanaugh Breyanna L, Milstein Michelle L, Boucher R Casey, Tan Sharon X, Hanna Mario W, Seidel Adam, Frederiksen Rikard, Saunders Thomas L, Sampath Alapakkam P, Mitton Kenneth P, Zhang Dao-Qi, Goldberg Andrew F X
Abstract excerpt
Mutations in PRPH2 are a relatively common cause of sight-robbing inherited retinal degenerations (IRDs). Peripherin-2 (PRPH2) is a photoreceptor-specific tetraspanin protein that structures the disk rim membranes of rod and cone outer segment (OS) organelles, and is required for OS morphogenesis. PRPH2 is noteworthy for its broad spectrum of disease phenotypes; both inter- and intra-familial heterogeneity have...
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