Authors: Claire G Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry Taylor, Amber McCartney, Joseph S Leslie, Andrea Accogli, Federico Zara, Monica Traverso, James Fasham, Joshua A Lees, Matteo P Ferla, Barry A Chioza, Olivia Wenger, Ethan Scott, Harold E Cross, Joanna Crawford, Ilka Warshawsky, Matthew Keisling, Dimitris Agamanolis, Catherine Ward Melver, Helen Cox, Mamoun Elawad, Tamas Marton, Matthew N 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: Article

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 and immunol... (read more)

DOI: 10.1093/brain/awab313