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Article

Defective phagosome motility and degradation in cell nonautonomous RPE pathogenesis of a dominant macular degeneration.

Proceedings of the National Academy of Sciences of the United States of America - 22 May 2018

Esteve-Rudd Julian, Hazim Roni A, Diemer Tanja, Paniagua Antonio E, Volland Stefanie, Umapathy Ankita, Williams David S

Abstract excerpt

Stargardt macular dystrophy 3 (STGD3) is caused by dominant mutations in the ELOVL4 gene. Like other macular degenerations, pathogenesis within the retinal pigment epithelium (RPE) appears to contribute to the loss of photoreceptors from the central retina. However, the RPE does not express ELOVL4, suggesting photoreceptor cell loss in STGD3 occurs through two cell nonautonomous events: mutant photoreceptors...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Macular Degeneration

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Source

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Identifiers

PMID: 29735674
DOI: 10.1073/pnas.1709211115
PMCID: PMC6003516

Genes

RPE
ELOVL4

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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