Associated Papers
Structural mechanisms of allosteric regulation in the human cis-prenyltransferase complex.
Giladi M et al.
Nature Communications, 2025
Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort.
Asboth B et al.
Genes, 2025
Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy.
Da Silva A et al.
Biorxiv : the Preprint Server for Biology, 2025
Dhdds T206A and Dhdds K42E knock-in mouse models of retinitis pigmentosa 59 are phenotypically similar.
Nguyen MN et al.
Disease Models & Mechanisms, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 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
N-Acetylcysteine Ameliorates Loss of the Electroretinogram b-wave in a Bardet-Biedl Syndrome Type 10 Mouse Model.
Rankin TJ et al.
Journal of Experimental Neurology, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Shalom S et al.
Genes, 2024
Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.
Monson E et al.
International Journal of Molecular Sciences, 2024
DHDDS and NUS1: A Converging Pathway and Common Phenotype.
Williams LJ et al.
Movement Disorders Clinical Practice, 2024
Loss of cis-PTase function in the liver promotes a highly penetrant form of fatty liver disease that rapidly transitions to hepatocellular carcinoma.
Singh AK et al.
Biorxiv : the Preprint Server for Biology, 2023
Congenital disorders of glycosylation (CDG): state of the art in 2022.
Francisco R et al.
Orphanet Journal of Rare Diseases, 2023
Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene.
Lv T et al.
Seizure, 2023
Cells Special Issue: "The Molecular and Cellular Basis of Retinal Diseases".
Pittler SJ et al.
Cells, 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
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Puckelwartz MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
DHDDS Mutation: A Rare Cause of Refractory Epilepsy and Hyperkinetic Movement Disorder.
Mehta S et al.
Journal of Movement Disorders, 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
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Vertebrate Animal Models of RP59: Current Status and Future Prospects.
Fliesler SJ et al.
International Journal of Molecular Sciences, 2022
Ultra-widefield fundus autofluorescence imaging in patients with autosomal recessive retinitis pigmentosa reveals a genotype-phenotype correlation.
Patal R et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2022
Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants.
Mousa J et al.
Molecular Genetics and Metabolism Reports, 2022
Curated variation benchmarks for challenging medically relevant autosomal genes.
Wagner J et al.
Nature Biotechnology, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S et al.
Brain : a Journal of Neurology, 2022
Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.
Jiao X et al.
Developmental Medicine and Child Neurology, 2022
Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS.
Kim S et al.
Annals of Clinical and Translational Neurology, 2021
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P et al.
Plos Genetics, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Knockdown of Dehydrodolichyl Diphosphate Synthase in the Drosophila Retina Leads to a Unique Pattern of Retinal Degeneration.
Brandwine T et al.
Frontiers in Molecular Neuroscience, 2021
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
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
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Lack of Overt Retinal Degeneration in a K42E Dhdds Knock-In Mouse Model of RP59.
Ramachandra Rao S et al.
Cells, 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
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D et al.
Human Mutation, 2020