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Article

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

10 Aug 2021

Abstract excerpt

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. DHDDS encodes for the catalytic subunit (DHDDS) of the enzyme cis-prenyltransferase (cis-PTase), involved in dolichol biosynthesis and dolichol-dependent protein glycosylation in the endoplasmic reticulum. An...

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PMID: 34382076
DOI: 10.1093/brain/awab299

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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusPMID 34382076Read ↗

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