Browsing by Author "Y, YL"
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A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay
Gotkine, M; de Majo, M; Wong, CH; Topp, SD; Michaelson-Cohen, R; Epsztejn-Litman, S; Eiges, R; Y, YL; Kanaan, M; Shaked, HM (Elsevier, 2021-06-04)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 ...