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Article

[Detection the mutated protein aggregation and mitochondrial function in fibroblasts from amyotrophic lateral sclerosis patients with SOD1 gene mutations].

Zhonghua yi xue za zhi - 5 Jul 2016

Liu W C, Liu T, Liu Z H, Deng M

Abstract excerpt

OBJECTIVES: To explore mutant superoxide dismutase (SOD)1 protein expression and mitochondrial function in amyotrophic lateral sclerosis (ALS) patients' fibroblasts carrying different SOD1 mutations. METHODS: SOD1 gene mutation was detected using PCR and direct sequencing. Skin fibroblasts of three familial ALS patients with mutations and age/gender matched controls obtained by a punch skin biopsy were cultured....

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Identifiers

PMID: 27470954
DOI: 10.3760/cma.j.issn.0376-2491.2016.25.005

Genes

SOD1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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