Article
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Neurobiology of aging - 1 Oct 2021
Gotkine Marc, de Majo Martina, Wong Chun Hao, Topp Simon D, Michaelson-Cohen Rachel, Epsztejn-Litman Silvina, Eiges Rachel, Y Yossef Lerner, Kanaan Moein, Shaked Hagar Mor, Alahmady Nada, Vance Caroline, Newhouse Stephen J, Breen Gerome, Nishimura Agnes L, Shaw Christopher E, Smith Bradley N
Abstract excerpt
Loss of function (LoF) mutations in Optineurin can cause recessive amyotrophic lateral sclerosis (ALS) with some heterozygous LoF mutations associated with dominant ALS. The molecular mechanisms underlying the variable inheritance pattern associated with OPTN mutations have remained elusive. We identified that affected members of a consanguineous Middle Eastern ALS kindred possessed a novel homozygous p.S174X...
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