We report a young female who presented with refractory epilepsy and hyperkinetic movement disorder comprising myoclonus, chorea and ataxia and was found to have a mutation in the DHDDS gene. A 25-year-old Sikh female born out of nonconsanguineous marriage presented with a history of generalized tonic–clonic convulsions since six months of age.

Feb 27, 2023 · Quick, simple, and reliable methods to assess the ligand-binding mode are key to developing and improving inhibitors against NDM-1. Herein, we report a straightforward NMR method to distinguish the NDM-1 ligand-binding mode using distinct NMR spectroscopy patterns of apo- and di-Zn-NDM-1 titrations with various inhibitors.

Welcome to Cure DHDDS a charity set up to raise awareness, support families and help drive research into the ultra-rare DHDDS gene mutations. Cure DHDDS is a registered charity in …

Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDS gene. [5][6] Dehydrodolichyl diphosphate (dedol-PP) synthase catalyzes cis- prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. [6]

Mar 29, 2022 · Subcellular membrane systems are highly enriched in dolichol, whose role in organelle homeostasis and endosomal-lysosomal pathway remains largely unclear besides being involved in protein glycosylation.

Jan 1, 2021 · In this study, recombinase polymerase amplification assays using a basic detection (Basic-RPA) and a real-time fluorescent detection (Exo-RPA) were established for detecting blaNDM gene. The RPA reactions were performed at 39 °C and finished within 20 min.

Ghosal hematodiaphyseal dysplasia, is a rare, autosomal recessive disease, characterized by diaphyseal dysplasia and metaphyseal dysplasia of the long bones and refractory anemia. [2][3][1] It is associated with a deficiency of Thromboxane-A …

Cure DHDDS is a charity set up to raise awareness of, and support families affected by, the ultra-rare DHDDS & NUS1 gene mutations.

Oct 7, 2019 · Here, we provide a structural model for the full-length human DHDDS using a multidisciplinary experimental and computational approach. Our model suggests that the C-terminal domain of DHDDS forms a helix-loop-helix motif, tightly packed against the core catalytic cis-prenyltransferase domain.

Oct 28, 2019 · Here, we provide a structural model for the full-length human DHDDS using a multidisciplinary experimental and computational approach. Size-exclusion chromatography multi-angle light scattering revealed that DHDDS forms a monodisperse homodimer in solution.