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Article

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Sept 2013

Yang Shu, Fifita Jennifer A, Williams Kelly L, Warraich Sadaf T, Pamphlett Roger, Nicholson Garth A, Blair Ian P

Abstract excerpt

Mutations in PFN1, a gene encoding the actin monomer-binding protein profilin 1, were recently reported in 1% to 2% of familial amyotrophic lateral sclerosis (ALS) patients. In vitro functional studies suggested that PFN1 mutations lead to ubiquitin-positive inclusions and impairment of cytoskele...

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Source

Identifiers

PMID: 23635659
DOI: 10.1016/j.neurobiolaging.2013.04.003

Genes

PFN1
FUS
SOD1
UBQLN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23635659-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis.PMID 23635659Read ↗

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