Associated Papers
Dhdds T206A and Dhdds K42E knock-in mouse models of retinitis pigmentosa 59 are phenotypically similar.
Nguyen MN et al.
Disease Models & Mechanisms, 2025
Modeling Retinitis Pigmentosa 59: Dhdds T206A and Dhdds K42E knock-in mutant mice are phenotypically similar.
Nguyen MN et al.
Biorxiv : the Preprint Server for Biology, 2025
Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene.
Lv T et al.
Seizure, 2023
A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission.
Nguyen MN et al.
Cell Death & Disease, 2023
Perspectives on Retinal Dolichol Metabolism, and Visual Deficits in Dolichol Metabolism-Associated Inherited Disorders.
Rao SR et al.
Advances in Experimental Medicine and Biology, 2023
Vertebrate Animal Models of RP59: Current Status and Future Prospects.
Fliesler SJ et al.
International Journal of Molecular Sciences, 2022
Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.
Jiao X et al.
Developmental Medicine and Child Neurology, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex.
Bar-El ML et al.
Nature Communications, 2020
Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation.
Ramachandra Rao S et al.
Iscience, 2020
Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration.
DeRamus ML et al.
Cells, 2020
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Kimchi A et al.
Ophthalmology, 2018
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Biswas P et al.
Physiological Genomics, 2017
A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
Ramkumar HL et al.
Genetic Testing and Molecular Biomarkers, 2017
Genetic defects in dolichol metabolism.
Buczkowska A et al.
Journal of Inherited Metabolic Disease, 2015
Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis.
Wen R et al.
Journal of Lipid Research, 2013
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0