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Article

The Cys214-->Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice.

The Biochemical journal - 1 Jun 2005

Stricker Heidi M, Ding Xi-Qin, Quiambao Alexander, Fliesler Steven J, Naash Muna I

Abstract excerpt

P/rds (peripherin/retinal degeneration slow) is a photoreceptor-specific membrane glycoprotein necessary for outer segment disc morphogenesis. Mutations in P/rds are associated with different blinding diseases. A C214S (Cys214-->Ser) missense mutation has been shown to be the cause for a late-onset form of ADRP (autosomal dominant retinitis pigmentosa) in humans. In the present study, we generated transgenic mice...

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Identifiers

PMID: 15656787
DOI: 10.1042/BJ20041960
PMCID: PMC1138968

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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