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Article

Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity.

Proceedings of the National Academy of Sciences of the United States of America - 11 Oct 2016

Yang Chunxing, Danielson Eric W, Qiao Tao, Metterville Jake, Brown Robert H, Landers John E, Xu Zuoshang

Abstract excerpt

Mutations in the profilin 1 (PFN1) gene cause amyotrophic lateral sclerosis (ALS), a neurodegenerative disease caused by the loss of motor neurons leading to paralysis and eventually death. PFN1 is a small actin-binding protein that promotes formin-based actin polymerization and regulates numerous cellular functions, but how the mutations in PFN1 cause ALS is unclear. To investigate this problem, we have...

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Source

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Identifiers

PMID: 27681617
DOI: 10.1073/pnas.1605964113
PMCID: PMC5068285

Genes

PFN1

Provenance

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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