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Article

Chronically shortened rod outer segments accompany photoreceptor cell death in Choroideremia

17 Nov 2020

Abstract excerpt

X-linked choroideremia (CHM) is a disease characterized by gradual retinal degeneration caused by loss of the Rab Escort Protein, REP1. Despite partial compensation by REP2 the disease is characterized by prenylation defects in multiple members of the Rab protein family that are master regulators of membrane traffic. Remarkably, the eye is the only organ affected in CHM patients, possibly because of the huge...

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PMID: 33201897
DOI: 10.1371/journal.pone.0242284

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