ArticleHuman molecular genetics2017
A Drosophila model of ALS reveals a partial loss of function of causative human PFN1 mutants.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Adult expression of Semaphorins and Plexins is essential for motor neuron survival.Scientific reports · 2023Article
- The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis.International journal of molecular sciences · 2022Article
- Inter-Species Rescue of Mutant Phenotype-The Standard for Genetic Analysis of Human Genetic Disorders inInternational journal of molecular sciences · 2022Review
- Glutamatergic Synapse Dysfunction inFrontiers in molecular neuroscience · 2022Article
- Profilin-1; a novel regulator of DNA damage response and repair machinery in keratinocytes.Molecular biology reports · 2021Article
- Review
- Neurexin and Neuroligins Maintain the Balance of Ghost and Satellite Boutons at theFrontiers in neuroanatomy · 2020Article
- Profilin Directly Promotes Microtubule Growth through Residues Mutated in Amyotrophic Lateral Sclerosis.Current biology : CB · 2017Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
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 PFN1 increases the number of ghost boutons, active zone density, F-actin content, and the formation of filopodia. In contrast, the expression of ALS-causative human PFN1 mutants causes a less pronounced phenotype, suggesting a loss of function of these mutants in promoting NMJ remodeling. Importantly, expression of human PFN1 in motor neurons results in progressive locomotion defects and shorter lifespan in adult flies, while ALS-causative PFN1 mutants display a less toxic effect. In summary, our study provides evidence that PFN1 is important in regulating NMJ morphology and influences survival and locomotion in Drosophila. Furthermore, our results suggest ALS-causative human PFN1 mutants display a partial loss of function relative to wild-type hPFN1 that may contribute to human disease pathogenesis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.