Article
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia.
Cerebellum (London, England) - 1 Aug 2022
Zanni G, D'Abrusco F, Nicita F, Cascioli S, Tosi M, Corrente F, Serpieri V, Ciccone R, Motta M, Vasco G, Carsetti R, Valente E M, Bertini E
Abstract excerpt
The glycophosphatidylinositol (GPI) anchor pathway plays an essential role in posttranslational modification of proteins to facilitate proper membrane anchoring and trafficking to lipid rafts, which is critical for many cell functions, including embryogenesis and neurogenesis. GPI biosynthesis is a multi-step process requiring the activity of over 25 distinct genes, most of them belonging to the...
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