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Article

Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.

Molecular and cellular biology - 1 Aug 2006

Thiel Christian, Lübke Torben, Matthijs Gert, von Figura Kurt, Körner Christian

Abstract excerpt

Mutations in the cytosolic enzyme phosphomannomutase 2 (PMM2), which catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate, cause the most common form of congenital disorders of glycosylation, termed CDG-Ia. It is an inherited multisystemic disease with severe neurological impairment. To study the pathophysiology of CDG-Ia and to investigate possible therapeutic approaches, we generated a mouse...

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Source

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Identifiers

PMID: 16847317
DOI: 10.1128/MCB.02391-05
PMCID: PMC1592760

Genes

PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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