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Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia

Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in <i>CHM</i>, encoding Rab escort protein 1 (REP-1), leading to under-prenylation of Rab GTPases (Rabs). Despite ubiquitous expression of <i>CHM</i>, the phenotype is limited to degeneration of the retina, retinal pigment epit...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Maide Ö. Raeker, Nirosha D. Perera, Athanasios J. Karoukis, Lisheng Chen, Kecia L. Feathers, Robin R. Ali, Debra A. Thompson, Abigail T. Fahim
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI AG 2024-06-01
Schriftenreihe:Cells
Schlagworte:
human pluripotent stem cells
disease modeling
retinal pigment epithelium
inherited retinal disease
retinal degeneration
choroideremia
Online-Zugang:https://www.mdpi.com/2073-4409/13/12/1068
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