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Jul 4, 2021
Knockdown of Dehydrodolichyl Diphosphate Synthase in the Drosophila Retina Leads to a Unique Pattern of Retinal Degeneration
Recessive mutations in DHDDS cause retinitis pigmentosa (RP59), resulting in blindness.
Jul 10, 2020
Role of DHDDS in Genetic Disease
Retinitis pigmentosa research probes role of the enzyme DHDDS in this genetic disease BIRMINGHAM, Ala. - Researchers who made a knock-in...
Jun 25, 2020
Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation
We hypothesized that rod photoreceptor-specific ablation of Dhdds would cause retinal degeneration due to diminished dolichol-dependent . .
Jun 9, 2020
Retinitis pigmentosa research probes role of the enzyme DHDDS in this genetic disease
By Jeff Hansen | June 10, 2020 Researchers who made a knock-in mouse-model of the genetic disorder retinitis pigmentosa 59, or RP59,...
Jan 1, 2014
Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa
DHDDS has been identified by whole exome sequencing as the cause of the non-syndromic recessive RP in a family of Ashkenazi Jewish origin.
Feb 11, 2011
A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews
Using homozygosity mapping in Ashkenazi Jewish (AJ) patients with arRP, we identified a shared 1.7 Mb homozygous region on chromosome 1p36.1
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