Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, André-Guimont C, Camu W, Bouchard JP, Dupré N, Rouleau GA, Wente SR, Dion PA
Hum Mol Genet. 2015 24 (5): 1363-73

PMID: 25343993 · PMCID: PMC4321443 · DOI:10.1093/hmg/ddu545

MeSH Terms (19)

Amyotrophic Lateral Sclerosis Animals Arthrogryposis Codon, Nonsense Disease Models, Animal DNA-Binding Proteins Haploinsufficiency HeLa Cells Humans Microscopy, Confocal Motor Neurons Mutation, Missense Nuclear Pore Nucleocytoplasmic Transport Proteins Pedigree Protein Processing, Post-Translational RNA, Messenger RNA Splicing Zebrafish

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