Authors: Claire G. Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry Taylor, Amber J. McCartney, Joseph S Leslie, Andrea Accogoli, Frederico Zara, M. Traverso, James Fasham, Joshua A. Lees, Matteo P. Ferla, Barry A. Chioza, Olivia Wenger, Ethan M. Scott, Harold E. Cross, Joanna Crawford, Ilka Warshawsky, Matthew Keisling, Dimitris P. Agamanolis, Catherine Ward Melver, Helen Cox, Mamoun Elawad, Tamas Marton, Matthew Wakeling, Dirk Holzinger, Stephan Tippelt, Martin Munteanu, Deyana Valcheva, Christin Deal, Sara Van Meerbeke, Catherine Walsh Vockley, Manish J. Butte, Utkucan Acar, Marjo S. van der Knaap, G. Christoph Korenke, Urania Kotzaeridou, Tamas Balla, Cas Simons, Holm H. Uhlig, Andrew H. Crosby, Pietro De Camilli, Nicole I. Wolf, Emma L. Baple
Venue: Brain
Type: Publication
Abstract: Abstract 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 or TCC7B) and FAM126, have been associated with a heterogeneous group of either neurological (FAM126A) or intestinal an...
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Topics: 
Genetics
Immunology
Cell biology
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