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    • Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients. 

      Gonzalez-Perez, Paloma [University of Massachusetts]; Woehlbier, Ute [Chile. Universidad Mayor]; Chian, Ru-Ju [Universidad de Chile]; Sapp, Peter [University of Massachusetts]; Rouleau, Guy A. [Montreal Neurological Institute and Hospital]; Leblond, Claire S. [Montreal Neurological Institute and Hospital]; Daoud, Hussein [Montreal Neurological Institute and Hospital]; Dion, Patrick A. [Montreal Neurological Institute and Hospital]; Landers, John E. [University of Massachusetts]; Hetz, Claudio [Universidad de Chile]; Brown, Robert H. [Universidad de Chile] (Facultad de Ciencias, 2015)
      Disruption of endoplasmic reticulum (ER) proteostasis is a salient feature of amyotrophic lateral sclerosis (ALS). Upregulation of ER foldases of the protein disulfide isomerase (PDI) family has been reported in ALS mouse ...