Biallelic PI4KA variants cause neurological, intestinal and immunological disease

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 heterotetra...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2021-12, Vol.144 (12), p.3597-3610
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Female Hereditary Central Nervous System Demyelinating Diseases - genetics Humans Intestinal Atresia - genetics Male Minor Histocompatibility Antigens - genetics Original Pedigree Phosphotransferases (Alcohol Group Acceptor) - genetics Polymorphism, Single Nucleotide Primary Immunodeficiency Diseases - genetics
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