The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis.

doi:10.3390/ijms23105694

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Article

The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis.

International journal of molecular sciences - 19 May 2022

Teyssou Elisa, Chartier Laura, Roussel Delphine, Perera Nirma D, Nemazanyy Ivan, Langui Dominique, Albert Mélanie, Larmonier Thierry, Saker Safaa, Salachas François, Pradat Pierre-François, Meininger Vincent, Ravassard Philippe, Côté Francine, Lobsiger Christian S, Boillée Séverine, Turner Bradley J, Seilhean Danielle, Millecamps Stéphanie

Abstract excerpt

Mutations in profilin 1 (PFN1) have been identified in rare familial cases of Amyotrophic Lateral Sclerosis (ALS). PFN1 is involved in multiple pathways that could intervene in ALS pathology. However, the specific pathogenic role of PFN1 mutations in ALS is still not fully understood. We hypothesized that PFN1 could play a role in regulating autophagy pathways and that PFN1 mutations could disrupt this function....

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Identifiers

PMID: 35628504
DOI: 10.3390/ijms23105694
PMCID: PMC9143529

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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