Article
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.
Nature cell biology - 1 Jan 2016
Baskin Jeremy M, Wu Xudong, Christiano Romain, Oh Michael S, Schauder Curtis M, Gazzerro Elisabetta, Messa Mirko, Baldassari Simona, Assereto Stefania, Biancheri Roberta, Zara Federico, Minetti Carlo, Raimondi Andrea, Simons Mikael, Walther Tobias C, Reinisch Karin M, De Camilli Pietro
Abstract excerpt
Genetic defects in myelin formation and maintenance cause leukodystrophies, a group of white matter diseases whose mechanistic underpinnings are poorly understood. Hypomyelination and congenital cataract (HCC), one of these disorders, is caused by mutations in FAM126A, a gene of unknown function. We show that FAM126A, also known as hyccin, regulates the synthesis of phosphatidylinositol 4-phosphate (PtdIns(4)P),...
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