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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

Marc Gotkine,Martina de Majo,Chun Hao Wong,Simon D. Topp,Rachel Michaelson-Cohen,Silvina Epsztejn-Litman,Rachel Eiges,Yossef Y. Lerner,Moein Kanaan,Hagar Mor Shaked,Nada Alahmady,Caroline Vance,Stephen J. Newhouse,Gerome Breen,Agnes L. Nishimura,Christopher E. Shaw,Bradley N. Smith

Neurobiology of Aging（2021）

Cited 4|Views32
Key words
Optineurin,ALS (Amyotrophic Lateral Sclerosis),Allele,LoF (loss of function),NMD (nonsense mediated decay)
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