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Article

Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration.

Cells - 21 Mar 2020

DeRamus Marci L, Davis Stephanie J, Rao Sriganesh Ramachandra, Nyankerh Cyril, Stacks Delores, Kraft Timothy W, Fliesler Steven J, Pittler Steven J

Abstract excerpt

Patients with certain defects in the dehydrodolichyl diphosphate synthase (DHDDS) gene (RP59; OMIM #613861) exhibit classic symptoms of retinitis pigmentosa, as well as macular changes, suggestive of retinal pigment epithelium (RPE) involvement. The DHDDS enzyme is ubiquitously required for several pathways of protein glycosylation. We wish to understand the basis for selective ocular pathology associated with...

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PMID: 32245241
DOI: 10.3390/cells9030771
PMCID: PMC7140717

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Source receipt: pubmed, retrieved 7 Sept 2026.

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