Now showing items 1-5 of 5

    • ALS-linked protein disulfide isomerase variants cause motor dysfunction 

      Woehlbier, Ute; Colombo Flores, Alicia; Saaranen, Mirva J.; Pérez, Viviana; Ojeda, Jorge; Bustos, Fernando J.; Andreu, Catherine; Torres, Mauricio; Valenzuela, Vicente; Medinas, Danilo B.; Rozas, Pablo; Vidal, René L.; López González, Rodrigo; Salameh, Johnny; Fernández Collemann, Sara; Muñoz, Natalia; Matus, Soledad; Armisen Yáñez, Ricardo; Sagredo, Alfredo; Palma, Karina; Irrázabal, Thergiory; Almeida, Sandra; González Pérez, Paloma; Campero, Mario; Gao, Fen-Biao; Henny, Pablo; Van Zundert, Brigitte; Ruddock, Lloyd W.; Concha, Miguel L.; Henríquez, Juan P.; Brown, Robert H.; Hetz Flores, Claudio (Wiley-Blackwell, 2016)
      Disturbance of endoplasmic reticulum (ER) proteostasis is a common feature of amyotrophic lateral sclerosis (ALS). Protein disulfide isomerases (PDIs) are ER foldases identified as possible ALS biomarkers, as well as ...
    • Endoplasmic reticulum stress leads to accumulation of wild-type SOD1 aggregates associated with sporadic amyotrophic lateral sclerosis 

      Medinas, Danilo B.; Rozas, Pablo; Martínez Traub, Francisca; Woehlbier, Ute; Brown, Robert H.; Bosco, Daryl A.; Hetz Flores, Claudio (National Academy of Sciences, 2018)
      © National Academy of Sciences. All rights reserved. Abnormal modifications to mutant superoxide dismutase 1 (SOD1) are linked to familial amyotrophic lateral sclerosis (fALS). Misfolding of wild-type SOD1 (SOD1WT) is also ...
    • Endoplasmic reticulum stress leads to accumulation of wild-type SOD1 aggregates associated with sporadic amyotrophic lateral sclerosis 

      Medinas, Danilo B.; Rozas, Pablo; Martínez Traub, Francisca; Woehlbier, Ute; Brown, Robert H.; Bosco, Daryl A.; Hetz Flores, Claudio (National Academy of Sciences, 2018-08-07)
      Abnormal modifications to mutant superoxide dismutase 1 (SOD1) are linked to familial amyotrophic lateral sclerosis (fALS). Misfolding of wild-type SOD1 (SOD1(WT)) is also observed in postmortem tissue of a subset of ...
    • Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients 

      González Pérez, Paloma; Woehlbier, Ute; Chian, Ru-Ju; Sapp, Peter; Rouleau, Guy A.; Leblond, Claire S.; Daoud, Hussein; Dion, Patrick A.; Landers, John E.; Hetz Flores, Claudio; Brown, Robert H. (Elsevier, 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 ...
    • XBP-1 deficiency in the nervous system protects against amyotrophic lateral sclerosis by increasing autophagy 

      Hetz Flores, Claudio; Thielen, Peter; Matus, Soledad; Nassif, Melissa; Court, Felipe; Kiffin, Roberta; Martinez, Gabriela; Cuervo, Ana María; Brown, Robert H.; Glimcher, Laurie H. (2009)
      Mutations in superoxide dismutase-1 (SOD1) cause familial amyotrophic lateral sclerosis (fALS). Recent evidence implicates adaptive responses to endoplasmic reticulum (ER) stress in the disease process via a pathway known ...