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Article

Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.

Proceedings of the National Academy of Sciences of the United States of America - 6 Dec 2022

Cehajic-Kapetanovic Jasmina, Martinez-Fernandez de la Camara Cristina, Birtel Johannes, Rehman Salwah, McClements Michelle E, Charbel Issa Peter, Lotery Andrew J, MacLaren Robert E

Abstract excerpt

Pathogenic variants in the Retinitis pigmentosa GTPase regulator (RPGR) gene lead to a clinically severe form of X-linked retinal dystrophy. However, it remains unclear why some variants cause a predominant rod, while others result in a cone-dominated phenotype. Post-translational glutamylation of the photoreceptor-specific RPGRORF15 isoform by the TTLL5 enzyme is essential for its optimal function in...

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Identifiers

PMID: 36445968
DOI: 10.1073/pnas.2208707119
PMCID: PMC9897430

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.PMID 36445968Read ↗

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