Article
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Brain : a journal of neurology - 31 Dec 2021
Salter Claire G, Cai Yiying, Lo Bernice, Helman Guy, Taylor Henry, McCartney Amber, Leslie Joseph S, Accogli Andrea, Zara Federico, Traverso Monica, Fasham James, Lees Joshua A, Ferla Matteo P, Chioza Barry A, Wenger Olivia, Scott Ethan, Cross Harold E, Crawford Joanna, Warshawsky Ilka, Keisling Matthew, Agamanolis Dimitris, Ward Melver Catherine, Cox Helen, Elawad Mamoun, Marton Tamas, Wakeling Matthew N, Holzinger Dirk, Tippelt Stephan, Munteanu Martin, Valcheva Deyana, Deal Christin, Van Meerbeke Sara, Walsh Vockley Catherine, Butte Manish J, Acar Utkucan, van der Knaap Marjo S, Korenke G Christoph, Kotzaeridou Urania, Balla Tamas, Simons Cas, Uhlig Holm H, Crosby Andrew H, De Camilli Pietro, Wolf Nicole I, Baple Emma L
Abstract excerpt
Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical roles in the physiology of multiple cell types. PI4KIIIα's role in PI4P generation requires its assembly into a heterotetrameric complex with EFR3, TTC7 and FAM126. Sequence alterations in two of these molecular partners, TTC7 (encoded by TTC7A...
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