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Article

Choroideremia: molecular mechanisms and development of AAV gene therapy.

Expert opinion on biological therapy - 1 Jul 2018

Patrício Maria I, Barnard Alun R, Xue Kanmin, MacLaren Robert E

Abstract excerpt

INTRODUCTION: Choroideremia is an X-linked inherited retinal degeneration that causes blindness in afflicted males by middle age. The causative gene, CHM, plays a key role in intracellular trafficking pathways, and its disruption impairs cell homeostasis. AREAS COVERED: The mechanism by which mutations in CHM cause choroideremia is still under debate. Here we describe the molecular defects in choroideremia cells...

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Source

Identifiers

PMID: 29932012
DOI: 10.1080/14712598.2018.1484448

Genes

CHM
RPE
CHML
ERG
HMGCR

Provenance

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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