Associated Papers
From Dish to Trial: Building Translational Models of ALS.
Salamotas I et al.
Cells, 2026
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
Activation of polo-like kinase 1 correlates with selective motor neuron vulnerability in familial ALS.
Szewczyk B et al.
Cell Reports, 2025
Targeting Amyotrophic Lateral Sclerosis with Gene Therapy: From Silencing Genes to Enhancing Neuroprotection.
Verdés S et al.
Human Gene Therapy, 2025
Nuclear Profilin-1 for DNA Damage Repair Is Involved in Phagocytic Impairment of Senescent Microglia.
Rim C et al.
Glia, 2025
Comprehensive characterization and validation of the Prp-hPFN1G118V mouse model: Guidelines for preclinical therapeutic testing for ALS.
Mueller KA et al.
Neurobiology of Disease, 2025
Abnormal regulation of membrane-less organelles contributes to profilin1-associated ALS.
Ma G et al.
The Journal of Biological Chemistry, 2025
Viral-mediated knockdown of Atxn2 attenuates TDP-43 pathology and muscle dysfunction in the PFN1C71G ALS mouse model.
Hawley ZCE et al.
Acta Neuropathologica Communications, 2025
Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 2.
Kubinski S et al.
Human Molecular Genetics, 2025
Using ALS to understand profilin 1's diverse roles in cellular physiology.
Lindamood HL et al.
Cytoskeleton (hoboken, N.j.), 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
Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia.
Marques C et al.
Acta Neuropathologica, 2024
Proximity Proteomics Revealed Aberrant mRNA Splicing Elicited by ALS-Linked Profilin-1 Mutants.
Wei S et al.
Analytical Chemistry, 2023
iPSC motor neurons, but not other derived cell types, capture gene expression changes in postmortem sporadic ALS motor neurons.
Held A et al.
Cell Reports, 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
Comparison between PFN1 and SOD1 mutations in amyotrophic lateral sclerosis.
Corcia P et al.
European Journal of Neurology, 2023
Profilin 1 deficiency drives mitotic defects and reduces genome stability.
Scotto di Carlo F et al.
Communications Biology, 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
Modelling amyotrophic lateral sclerosis in rodents.
Todd TW et al.
Nature Reviews. Neuroscience, 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
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
Human sensorimotor organoids derived from healthy and amyotrophic lateral sclerosis stem cells form neuromuscular junctions.
Pereira JD et al.
Nature Communications, 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
Mitochondrial dysfunction and traffic jams in amyotrophic lateral sclerosis.
Jhanji R et al.
Mitochondrion, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Female sex mitigates motor and behavioural phenotypes in TDP-43Q331K knock-in mice.
Watkins J et al.
Scientific Reports, 2020
A Systematic and Comprehensive Review on Disease-Causing Genes in Amyotrophic Lateral Sclerosis.
Srinivasan E et al.
Journal of Molecular Neuroscience : Mn, 2020
Molecular and Cellular Mechanisms Affected in ALS.
Le Gall L et al.
Journal of Personalized Medicine, 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