{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"bioRxiv"}],"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T01:59:20Z","timestamp":1785376760409,"version":"3.55.0"},"posted":{"date-parts":[[2025,8,21]]},"group-title":"Neuroscience","reference-count":57,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T00:00:00Z","timestamp":1755734400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.biorxiv.org\/about\/FAQ#license"}],"funder":[{"name":"Canadian Institutes of Health Research\/ Canadian Rare Disease Models and Mechanisms Network","award":["170117-002-001"],"award-info":[{"award-number":["170117-002-001"]}]},{"name":"Canadian Institutes of Health Research\/ Canadian Rare Disease Models and Mechanisms Network","award":["PJT-438786"],"award-info":[{"award-number":["PJT-438786"]}]},{"name":"DHDDS Foundation","award":["NA"],"award-info":[{"award-number":["NA"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2026,7,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:p>\n                  Developmental delay and seizures with or without movement abnormalities (OMIM 617836) caused by heterozygous pathogenic variants in the\n                  <jats:italic>DHDDS<\/jats:italic>\n                  gene (DHDDS-CDG) is a rare genetic disease that belongs to the progressive encephalopathy spectrum. It results in cognitive delay in affected children, accompanied by myoclonus, seizures, ataxia and tremor, which worsens over time.\n                  <jats:italic>DHDDS<\/jats:italic>\n                  encodes a subunit of a DHDDS\/NUS1 cis-prenyltransferase (\n                  <jats:italic>cis-<\/jats:italic>\n                  PTase), a branch point enzyme of the mevalonate pathway essential for N-linked glycosylation. We describe the first mouse model of this disease,\n                  <jats:italic>\n                    Dhdds\n                    <jats:sup>R37H+\/-<\/jats:sup>\n                  <\/jats:italic>\n                  strain, heterozygous for the human recurrent\n                  <jats:italic>de novo<\/jats:italic>\n                  c.110G&gt;A:p.R37H pathogenic variant.\n                  <jats:italic>\n                    Dhdds\n                    <jats:sup>R37H+\/-<\/jats:sup>\n                  <\/jats:italic>\n                  mice present with seizures, myoclonus and memory deficits associated with reduced density or\/and maturity of inhibitory interneurons in the cortex. Multiomics analyses of mouse CNS tissues, together with the enzymatic\/structural characterization of the R37H DHDDS mutant protein, reveal that the variant produces a catalytically inactive enzyme and results in a brain dolichol deficit, aberrant glycosylation of brain glycoproteins, including those involved in synaptic transmission and major perturbations in the CNS proteome and lipidome. Acetazolamide, a carbonic anhydrase inhibitor clinically approved for treatment of glaucoma, epilepsy, and intracranial hypertension, and successfully used \u201coff-label\u201d to treat genetic movement disorders, reduces seizure susceptibility to pentylenetetrazol in\n                  <jats:italic>\n                    Dhdds\n                    <jats:sup>R37H+\/-<\/jats:sup>\n                  <\/jats:italic>\n                  mice, suggesting potential therapeutic value of using this drug in human DHDDS-CDG patients. Together, our results define\n                  <jats:italic>cis-<\/jats:italic>\n                  PTase as a master regulator of CNS development and function and establish that its monoallelic debilitating variants cause a novel congenital disorder of glycosylation associated with aberrant levels of neuronal proteins and lipids.\n                <\/jats:p>","DOI":"10.1101\/2025.08.15.670547","type":"posted-content","created":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T19:55:16Z","timestamp":1755806116000},"source":"Crossref","is-referenced-by-count":1,"title":["Mice with mono-allelic p.R37H\n                  <i>Dhdds<\/i>\n                  variant show aberrant glycosylation and interneuron deficits"],"prefix":"10.64898","author":[{"given":"Afitz","family":"Da Silva","sequence":"first","affiliation":[{"name":"CHU Ste-Justine, Department of Paediatrics, Universit\u00e9 de Montr\u00e9al, QC, 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