Associated Papers
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Using ALS to understand profilin 1's diverse roles in cellular physiology.
Lindamood HL et al.
Cytoskeleton (hoboken, N.j.), 2025
Comparison between PFN1 and SOD1 mutations in amyotrophic lateral sclerosis.
Corcia P et al.
European Journal of Neurology, 2023
Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree.
Angelov T et al.
Frontiers in Neurology, 2023
Current insights in the molecular genetic pathogenesis of amyotrophic lateral sclerosis.
Zhou W et al.
Frontiers in Neuroscience, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Multiple roles for the cytoskeleton in ALS.
Liu X et al.
Experimental Neurology, 2022
The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis.
Teyssou E et al.
International Journal of Molecular Sciences, 2022
Biochemical characterization of actin assembly mechanisms with ALS-associated profilin variants.
Liu X et al.
European Journal of Cell Biology, 2022
Detection of structural and conformational changes in ALS-causing mutant profilin-1 with hydrogen/deuterium exchange mass spectrometry and bioinformatics techniques.
Sadr AS et al.
Metabolic Brain Disease, 2022
Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors.
Wei Z et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021
A Systematic and Comprehensive Review on Disease-Causing Genes in Amyotrophic Lateral Sclerosis.
Srinivasan E et al.
Journal of Molecular Neuroscience : Mn, 2020
Mutation of PFN1 Gene in an Early Onset, Polyostotic Paget-like Disease.
Merlotti D et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Familial flail leg ALS caused by PFN1 mutation.
Zou ZY et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
A Familial Phenotypic and Genetic Study of Mutations in PFN1 Associated with Amyotrophic Lateral Sclerosis.
Chi J et al.
Neuroscience Bulletin, 2020
Developmental Expression of Mutant PFN1 in Motor Neurons Impacts Neuronal Growth and Motor Performance of Young and Adult Mice.
Brettle M et al.
Frontiers in Molecular Neuroscience, 2019
Changes in biophysical characteristics of PFN1 due to mutation causing amyotrophic lateral sclerosis.
Nekouei M et al.
Metabolic Brain Disease, 2018
ALS-causing mutations in profilin-1 alter its conformational dynamics: A computational approach to explain propensity for aggregation.
Kiaei M et al.
Scientific Reports, 2018
Stability of an aggregation-prone partially folded state of human profilin-1 correlates with aggregation propensity.
Del Poggetto E et al.
The Journal of Biological Chemistry, 2018
Profilin1 biology and its mutation, actin(g) in disease.
Alkam D et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease.
Fil D et al.
Human Molecular Genetics, 2017
Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum.
Shahheydari H et al.
Frontiers in Molecular Neuroscience, 2017
Biophysical analysis of three novel profilin-1 variants associated with amyotrophic lateral sclerosis indicates a correlation between their aggregation propensity and the structural features of their globular state.
Del Poggetto E et al.
Biological Chemistry, 2016
Mutations of Profilin-1 Associated with Amyotrophic Lateral Sclerosis Promote Aggregation Due to Structural Changes of Its Native State.
Del Poggetto E et al.
Acs Chemical Biology, 2015
Profilin 1 with the amyotrophic lateral sclerosis associated mutation T109M displays unaltered actin binding and does not affect the actin cytoskeleton.
Freischmidt A et al.
Bmc Neuroscience, 2015
Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.
Smith BN et al.
Neurobiology of Aging, 2015
Profilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics.
Figley MD et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014
PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis.
Chen Y et al.
Neurobiology of Aging, 2013
Mutant Profilin1 Aggregation in Amyotrophic Lateral Sclerosis: An in Vivo Biochemical Analysis.
Nekouei M et al.
Basic and Clinical Neuroscience, 0