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Article

CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model.

Human molecular genetics - 8 May 2020

Lukacs Marshall, Blizzard Lauren E, Stottmann Rolf W

Abstract excerpt

The glycosylphosphatidylinositol (GPI) anchor is a post-translational modification added to approximately 150 different proteins to facilitate proper membrane anchoring and trafficking to lipid rafts. Biosynthesis and remodeling of the GPI anchor requires the activity of over 20 distinct genes. Defects in the biosynthesis of GPI anchors in humans lead to inherited glycosylphosphatidylinositol deficiency (IGD)....

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Identifiers

PMID: 32179897
DOI: 10.1093/hmg/ddaa046
PMCID: PMC7206848

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