Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease

Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease

<div><p>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 int...

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Main Author: Claire G Salter (18595783) (author)
Other Authors: Yiying Cai (328668) (author), Bernice Lo (3441317) (author), Guy Helman (753601) (author), Henry Taylor (6737321) (author), Amber McCartney (263665) (author), Joseph S Leslie (18595786) (author), Andrea Accogli (350788) (author), Federico Zara (176248) (author), Monica Traverso (8522328) (author), James Fasham (5698061) (author), Joshua A Lees (18595789) (author), Matteo P Ferla (18595576) (author), Barry A Chioza (16267682) (author), Olivia Wenger (11486057) (author), Ethan Scott (11486060) (author), Harold E Cross (16267679) (author), Joanna Crawford (151000) (author), Ilka Warshawsky (18595792) (author), Matthew Keisling (14166051) (author), Dimitris Agamanolis (18595795) (author), Catherine Ward Melver (18595798) (author), Helen Cox (66086) (author), Mamoun Elawad (438979) (author), Tamas Marton (18595801) (author), Matthew N Wakeling (12025189) (author), Dirk Holzinger (255078) (author), Stephan Tippelt (13108938) (author), Martin Munteanu (9302297) (author), Deyana Valcheva (18595804) (author), Christin Deal (18595807) (author), Sara Van Meerbeke (14921757) (author), Catherine Walsh Vockley (18595810) (author), Manish J Butte (14069481) (author), Utkucan Acar (18595813) (author), Marjo S van der Knaap (16290449) (author), G Christoph Korenke (18595816) (author), Urania Kotzaeridou (18595819) (author), Tamas Balla (733817) (author), Cas Simons (36269) (author), Holm H Uhlig (18595822) (author), Andrew H Crosby (16254278) (author), Pietro De Camilli (11283579) (author), Nicole I Wolf (18595825) (author), Emma L Baple (15449710) (author)
Published: 2021
Subjects:
Biological sciences
Biochemistry and cell biology
hypomyelinating leukodystrophy
multiple intestinal atresia
PI4KA
FAM126A
TTC7A
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