Article
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Molecular genetics and metabolism - 1 May 2020
Davids Mariska, Menezes Minal, Guo Yiran, McLean Scott D, Hakonarson Hakon, Collins Felicity, Worgan Lisa, Billington Charles J, Maric Irina, Littlejohn Rebecca Okashah, Onyekweli Tito, Members Of The Udn, Adams David R, Tifft Cynthia J, Gahl William A, Wolfe Lynne A, Christodoulou John, Malicdan May Christine V
Abstract excerpt
BACKGROUND: Mutations in the ARV1 Homolog, Fatty Acid Homeostasis Modulator (ARV1), have recently been described in association with early infantile epileptic encephalopathy 38. Affected individuals presented with epilepsy, ataxia, profound intellectual disability, visual impairment, and central hypotonia. In S. cerevisiae, Arv1 is thought to be involved in sphingolipid metabolism and glycophosphatidylinositol...
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