Association studies indicate that protein disulfide isomerase is a risk factor in amyotrophic lateral sclerosis

Protein disulfide isomerase (PDI) plays an important role in the endoplasmic reticulum (ER) by facilitating the exchange of disulfide bonds and, together with other ER stress proteins, is induced in amyotrophic lateral sclerosis (ALS). However, genetic polymorphisms in the P4HB gene, which encodes P...

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Veröffentlicht in:	Free radical biology & medicine 2013-05, Vol.58, p.81-86
Hauptverfasser:	Kwok, Chun Tak, Morris, Alex G., Frampton, Jenny, Smith, Bradley, Shaw, Christopher E., de Belleroche, Jackie
Format:	Artikel
Sprache:	eng
Schlagworte:	alleles Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics disulfide bonds endoplasmic reticulum Endoplasmic reticulum stress Free radicals Genetic Association Studies Genetic Predisposition to Disease Haplotypes homozygosity Humans modifiers (genes) Mutation Oxidation-Reduction Polymorphism, Single Nucleotide Procollagen-Proline Dioxygenase - genetics Prolyl 4-hydroxylase subunit β Protein disulfide isomerase Protein Disulfide-Isomerases - genetics proteins risk factors sclerosis single nucleotide polymorphism
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