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
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
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
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
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
Protein Citrullination in Amyotrophic Lateral Sclerosis and Other Neurodegenerative Diseases.
Yusuf IO et al.
Journal of Experimental Neurology, 2024
Proximity Proteomics Revealed Aberrant mRNA Splicing Elicited by ALS-Linked Profilin-1 Mutants.
Wei S et al.
Analytical Chemistry, 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
Protein citrullination marks myelin protein aggregation and disease progression in mouse ALS models.
Yusuf IO et al.
Acta Neuropathologica Communications, 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
Modelling amyotrophic lateral sclerosis in rodents.
Todd TW et al.
Nature Reviews. Neuroscience, 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
Novel reporters of mitochondria-associated membranes (MAM), MAMtrackers, demonstrate MAM disruption as a common pathological feature in amyotrophic lateral sclerosis.
Sakai S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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