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Article

A Drosophila model of ALS reveals a partial loss of function of causative human PFN1 mutants.

Human molecular genetics - 1 Jun 2017

Wu Chi-Hong, Giampetruzzi Anthony, Tran Helene, Fallini Claudia, Gao Fen-Biao, Landers John E

Abstract excerpt

Mutations in the profilin 1 (PFN1) gene are causative for familial amyotrophic lateral sclerosis (fALS). However, it is still not fully understood how these mutations lead to neurodegeneration. To address this question, we generated a novel Drosophila model expressing human wild-type and ALS-causative PFN1 mutants. We show that at larval neuromuscular junctions (NMJ), motor neuron expression of wild-type human...

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Identifiers

PMID: 28379367
DOI: 10.1093/hmg/ddx112
PMCID: PMC6251673

Genes

PFN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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