Associated Papers
A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission.
Nguyen MN et al.
Cell Death & Disease, 2023
Vertebrate Animal Models of RP59: Current Status and Future Prospects.
Fliesler SJ et al.
International Journal of Molecular Sciences, 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
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S et al.
Brain : a Journal of Neurology, 2022
Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation.
Ramachandra Rao S et al.
Iscience, 2020
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
Sabry S et al.
Orphanet Journal of Rare Diseases, 2016
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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