ALS-linked protein disulfide isomerase variants cause motor dysfunction.

doi:10.15252/embj.201592224

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Article

ALS-linked protein disulfide isomerase variants cause motor dysfunction.

The EMBO journal - 15 Apr 2016

Woehlbier Ute, Colombo Alicia, Saaranen Mirva J, Pérez Viviana, Ojeda Jorge, Bustos Fernando J, Andreu Catherine I, Torres Mauricio, Valenzuela Vicente, Medinas Danilo B, Rozas Pablo, Vidal Rene L, Lopez-Gonzalez Rodrigo, Salameh Johnny, Fernandez-Collemann Sara, Muñoz Natalia, Matus Soledad, Armisen Ricardo, Sagredo Alfredo, Palma Karina, Irrazabal Thergiory, Almeida Sandra, Gonzalez-Perez Paloma, Campero Mario, Gao Fen-Biao, Henny Pablo, van Zundert Brigitte, Ruddock Lloyd W, Concha Miguel L, Henriquez Juan P, Brown Robert H, Hetz Claudio

Abstract excerpt

Disturbance of endoplasmic reticulum (ER) proteostasis is a common feature of amyotrophic lateral sclerosis (ALS). Protein disulfide isomerases (PDIs) areERfoldases identified as possibleALSbiomarkers, as well as neuroprotective factors. However, no functional studies have addressed their impact on the disease process. Here, we functionally characterized fourALS-linked mutations recently identified in two...

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PMID: 26869642
DOI: 10.15252/embj.201592224
PMCID: PMC4972141

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