Associated Papers
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
Inborn errors of canonical autophagy in neurodegenerative diseases.
Freisem D et al.
Human Molecular Genetics, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Nuclear Profilin-1 for DNA Damage Repair Is Involved in Phagocytic Impairment of Senescent Microglia.
Rim C et al.
Glia, 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 role of autophagy in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Beckers J et al.
Autophagy Reports, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 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
Recent insights from human induced pluripotent stem cell models into the role of microglia in amyotrophic lateral sclerosis.
Nikel LM et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2024
Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.
Funes S et al.
Nature Communications, 2024
Proximity Proteomics Revealed Aberrant mRNA Splicing Elicited by ALS-Linked Profilin-1 Mutants.
Wei S et al.
Analytical Chemistry, 2023
The actin binding protein profilin 1 is critical for mitochondria function.
Read TA et al.
Biorxiv : the Preprint Server for Biology, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.
Funes S et al.
Biorxiv : the Preprint Server for Biology, 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
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
Detergent-insoluble inclusion constitutes the first pathology in PFN1 transgenic rats.
Yuan G et al.
Journal of Neurochemistry, 2021
Effect of familial clustering in the genetic screening of 235 French ALS families.
Corcia P et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 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
Disrupted neuronal trafficking in amyotrophic lateral sclerosis.
Burk K et al.
Acta Neuropathologica, 2019