Article
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
Neurogenetics - 1 Oct 2020
Segel Reeval, Aran Adi, Gulsuner Suleyman, Nakamura Hiroki, Rosen Tzvia, Walsh Tom, Denda Hiroto, Zeligson Sharon, Eto Katsuki, Beeri Rachel, Okai Haruka, King Mary-Claire, Levy-Lahad Ephrat, Funato Kouichi, Renbaum Paul
Abstract excerpt
Deficiency of the endoplasmic reticulum transmembrane protein ARV1 leads to epileptic encephalopathy in humans and in mice. ARV1 is highly conserved, but its function in human cells is unknown. Studies of yeast arv1 null mutants indicate that it is involved in a number of biochemical processes including the synthesis of sphingolipids and glycosylphosphatidylinositol (GPI), a glycolipid anchor that is attached to...
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