ArticleAmyotrophic lateral sclerosis & frontotemporal degeneration2013
Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia.
Article in Amyotrophic lateral sclerosis & frontotemporal degeneration, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 28 citations in OpenAlex.
- The contribution of brain banks to knowledge discovery in amyotrophic lateral sclerosis: A systematic review.Neuropathology and applied neurobiology · 2022Pooled it
- A Systematic and Comprehensive Review on Disease-Causing Genes in Amyotrophic Lateral Sclerosis.Journal of molecular neuroscience : MN · 2020Pooled it
- Amyotrophic Lateral Sclerosis: Focus on Cytoplasmic Trafficking and Proteostasis.Molecular neurobiology · 2025Review
- The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis.International journal of molecular sciences · 2022Article
- Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria.Amyotrophic lateral sclerosis & frontotemporal degeneration · 2017Review
- Profilin1 biology and its mutation, actin(g) in disease.Cellular and molecular life sciences : CMLS · 2017Review
- Familial Amyotrophic Lateral Sclerosis-linked Mutations in Profilin 1 Exacerbate TDP-43-induced Degeneration in the Retina of Drosophila melanogaster through an Increase in the Cytoplasmic Localization of TDP-43.The Journal of biological chemistry · 2016Article
- The genetics of amyotrophic lateral sclerosis: current insights.Degenerative neurological and neuromuscular disease · 2016Review
- Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.Acta neuropathologica · 2015Article
- Structural basis for mutation-induced destabilization of profilin 1 in ALS.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.Neurobiology of aging · 2015Article
- PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis.Journal of neurology · 2014Article
- Profilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2014Article
- Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.Journal of neurology, neurosurgery, and psychiatry · 2014Article
- Rac1 at the crossroad of actin dynamics and neuroinflammation in Amyotrophic Lateral Sclerosis.Frontiers in cellular neuroscience · 2014Review
- Amyotrophic lateral sclerosis: an update on recent genetic insights.Journal of neurology · 2013Review
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
Mutations in profilin-1 (PFN1) have recently been identified in patients with amyotrophic lateral sclerosis (ALS). Because of the considerable overlap between ALS and the common subtype of frontotemporal dementia, which is characterized by transactive response DNA-binding protein 43 pathology (FTLD-TDP), we tested cohorts of ALS and FTLD-TDP patients for PFN1 mutations. DNA was obtained from 342 ALS patients and 141 FTLD-TDP patients at our outpatient clinic and brain bank for neurodegenerative diseases at the Mayo Clinic Florida, Jacksonville, USA. We screened these patients for mutations in coding regions of PFN1 by Sanger sequencing. Subsequently, we used TaqMan genotyping assays to investigate the identified variant in 1167 control subjects. From the results, one variant, p.E117G, was detected in one ALS patient, one FTLD-TDP patient, and two control subjects. The mutation frequency of patients versus control subjects was not significantly different (p-value = 0.36). Moreover, PFN1 and TDP-43 staining of autopsy material did not differ between patients with or without this variant. In conclusion, the p.E117G variant appears to represent a benign polymorphism. PFN1 mutations, in general, are rare in ALS and FTLD-TDP patients.
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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.