Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
A Missense Mutation in Close Proximity of ALS-linked PFN1 Mutations Causes Only Early-onset Paget Disease of Bone.
Weng R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Abnormal regulation of membrane-less organelles contributes to profilin1-associated ALS.
Ma G et al.
The Journal of Biological Chemistry, 2025
Using ALS to understand profilin 1's diverse roles in cellular physiology.
Lindamood HL et al.
Cytoskeleton (hoboken, N.j.), 2025
The actin binding protein profilin 1 localizes inside mitochondria and is critical for their function.
Read TA et al.
Embo Reports, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
The actin binding protein profilin 1 is critical for mitochondria function.
Read TA et al.
Biorxiv : the Preprint Server for Biology, 2023
Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.
Scaber J et al.
European Journal of Neurology, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Comparison between PFN1 and SOD1 mutations in amyotrophic lateral sclerosis.
Corcia P et al.
European Journal of Neurology, 2023
The paradigm of amyloid precursor protein in amyotrophic lateral sclerosis: The potential role of the 682YENPTY687 motif.
Matrone C
Computational and Structural Biotechnology Journal, 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
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
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
The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Davidson JM et al.
Neurobiology of Disease, 2022
Biochemical characterization of actin assembly mechanisms with ALS-associated profilin variants.
Liu X et al.
European Journal of Cell Biology, 2022
Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.
Bonifacino T et al.
International Journal of Molecular Sciences, 2021
ALS-linked PFN1 variants exhibit loss and gain of functions in the context of formin-induced actin polymerization.
Schmidt EJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
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
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.
Iacoangeli A et al.
Brain Communications, 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
The NGS technology for the identification of genes associated with the ALS. A systematic review.
Pecoraro V et al.
European Journal of Clinical Investigation, 2020
Familial flail leg ALS caused by PFN1 mutation.
Zou ZY et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
The Neglected Genes of ALS: Cytoskeletal Dynamics Impact Synaptic Degeneration in ALS.
Castellanos-Montiel MJ et al.
Frontiers in Cellular Neuroscience, 2020
Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis.
Giampetruzzi A et al.
Nature Communications, 2019
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Mehta PR et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
In silico analysis of PFN1 related to amyotrophic lateral sclerosis.
Pereira GRC et al.
Plos One, 2019
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
TDP-43 and Cytoskeletal Proteins in ALS.
Oberstadt M et al.
Molecular Neurobiology, 2018
The Actin Cytoskeleton in SMA and ALS: How Does It Contribute to Motoneuron Degeneration?
Hensel N et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2018
Profilin Directly Promotes Microtubule Growth through Residues Mutated in Amyotrophic Lateral Sclerosis.
Henty-Ridilla JL et al.
Current Biology : Cb, 2017
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Morgan S et al.
Brain : a Journal of Neurology, 2017
Intrinsic disorder in proteins involved in amyotrophic lateral sclerosis.
Santamaria N et al.
Cellular and Molecular Life Sciences : Cmls, 2017
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
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum.
Shahheydari H et al.
Frontiers in Molecular Neuroscience, 2017
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.
Matsukawa K et al.
The Journal of Biological Chemistry, 2016