Article

Niemann-Pick C-like endo-lysosomal dysfunction in DHDDS patient cells, a congenital disorder of glycosylation, can be treated with miglustat

2025-01-09

Abstract excerpt

DHDDS (dehydrodolichol diphosphate synthetase) and NgBR (Nogo-B Receptor) collectively form an enzymatic complex important for the synthesis of dolichol – a key component of protein N-glycosylation. Mutations in DHDDS and the gene encoding NgBR ( NUS1) are associated with neurodevelopmental disorders that clinically present with epilepsy, motor impairments, and developmental delay. Previous work has demonstrated...

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Literature Corpus work: b0009294-0ce8-5ca5-8408-ee87a1cfd0f6
DOI: 10.1101/2025.01.08.631939

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