DHDDS

Disease Category: autosomal recessive

Patient Population:

Known Clinical Trials: 

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Image by Peter Nguyen

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A FACE OF RP

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ACADEMIC PAPERS|JOURNAL ARTICLES|PERSONAL STORIES

Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation

Dehydrodolichyl diphosphate synthase (DHDDS) catalyzes the committed step in dolichol synthesis. Recessive mutations in DHDDS cause retinitis pigmentosa (RP59), resulting in blindness. We hypothesized that rod photoreceptor-specific ablation of Dhdds would cause retinal degeneration due to diminished dolichol-dependent protein N-glycosylation.

Knockdown of Dehydrodolichyl Diphosphate Synthase in the  Drosophila Retina Leads to a Unique Pattern of Retinal Degeneration

Dehydrodolichyl diphosphate synthase (DHDDS) catalyzes the committed step in dolichol synthesis. Recessive mutations in DHDDS cause retinitis pigmentosa (RP59), resulting in blindness. We hypothesized that rod photoreceptor-specific ablation of Dhdds would cause retinal degeneration due to diminished dolichol-dependent protein N-glycosylation.

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