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

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 models and spinal cord tissue and body fluids derived from sporadic ALS cases....

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Pubblicato in:Gene
Autori principali: Gonzalez-Perez, Paloma, Woehlbier, Ute, Chian, Ru-Ju, Sapp, Peter, Rouleau, Guy A., Leblond, Claire S., Daoud, Hussein, Dion, Patrick A., Landers, John E., Hetz, Claudio, Brown, Robert H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5553116/
https://ncbi.nlm.nih.gov/pubmed/25913742
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2015.04.035
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