Article

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology

2025-06-03

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a group of neurogenetic conditions resulting from disruptions in the cellular glycosylation machinery. The majority of CDG patients have compound heterozygous pathogenic variants in the phosphomannomutase 2 ( PMM2) gene. Individuals with PMM2-CDG exhibit multi-systemic symptoms, prominently featuring neurological deficits with nearly all patients exhibiting cerebell...

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Literature Corpus work: 032feb38-763e-5317-ad50-4f22c8d15960
DOI: 10.1101/2025.06.01.657261

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