Article
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.
Genome medicine - 19 Jan 2022
Restuadi Restuadi, Steyn Frederik J, Kabashi Edor, Ngo Shyuan T, Cheng Fei-Fei, Nabais Marta F, Thompson Mike J, Qi Ting, Wu Yang, Henders Anjali K, Wallace Leanne, Bye Chris R, Turner Bradley J, Ziser Laura, Mathers Susan, McCombe Pamela A, Needham Merrilee, Schultz David, Kiernan Matthew C, van Rheenen Wouter, van den Berg Leonard H, Veldink Jan H, Ophoff Roel, Gusev Alexander, Zaitlen Noah, McRae Allan F, Henderson Robert D, Wray Naomi R, Giacomotto Jean, Garton Fleur C
Abstract excerpt
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a complex, late-onset, neurodegenerative disease with a genetic contribution to disease liability. Genome-wide association studies (GWAS) have identified ten risk loci to date, including the TNIP1/GPX3 locus on chromosome five. Given association analysis data alone cannot determine the most plausible risk gene for this locus, we undertook a comprehensive suite of...
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