Browsing by Author "González Pérez, Paloma"

Now showing items 1-2 of 2

    • 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 Bilches, Danilo; 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 ...
    • 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 ...