Article
Expression of amyotrophic lateral sclerosis associated protein disulfide isomerase A3 D217N variant recapitulates early morphological alterations at the neuromuscular junction.
Neurobiology of disease - 1 Oct 2025
Sepulveda Martin, MartinezTraub Francisca, Ojeda Patricia, Mella Jessica, Ojeda Jorge, Pinto Cristina, Diaz Rodrigo, Rozas Pablo, Sepulveda Claudia, Kerr Bredford, Morales Vania, Saaranen Mirva, Ruddock Lloyd, Medinas Danilo B, Henriquez Juan Pablo, Hetz Claudio
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by neuromuscular connectivity decline followed by motoneuron loss. Altered proteostasis is suggested as a transversal pathogenic mechanism, notably involving dysfunction at the level of the endoplasmic reticulum (ER). Protein disulfide isomerases (PDIs) are key enzymes that catalyze protein folding and disulfide bond formation...
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