Associated Papers
CRISPR/Cas9 a genomic engineering technology for treatment in ALS mouse models.
Khan H et al.
Regenerative Therapy, 2025
Matrin-3 forms spherical and wormlike assemblies that are modulated by RNA binding and ALS/FTD-associated mutations.
Sprunger ML et al.
Molecular Cell, 2025
Random forest model improves annotation and discovery of variants of uncertain significance in Alzheimer's and other neurological disorders.
Jonson C et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Blending and separating dynamics of RNA-binding proteins develop architectural splicing networks spreading throughout the nucleus.
Masuda A et al.
Molecular Cell, 2024
The role of Matrin-3 in physiology and its dysregulation in disease.
Sprunger ML et al.
Biochemical Society Transactions, 2024
MATR3's Role beyond the Nuclear Matrix: From Gene Regulation to Its Implications in Amyotrophic Lateral Sclerosis and Other Diseases.
Santos JR et al.
Cells, 2024
MATR3-antisense LINE1 RNA meshwork scaffolds higher-order chromatin organization.
Zhang Y et al.
Embo Reports, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
MATR3 P154S knock-in mice do not exhibit motor, muscle or neuropathologic features of ALS.
Dominick M et al.
Biochemical and Biophysical Research Communications, 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
1H, 13C and 15N resonance assignments and solution structures of the two RRM domains of Matrin-3.
He F et al.
Biomolecular Nmr Assignments, 2022
Modelling amyotrophic lateral sclerosis in rodents.
Todd TW et al.
Nature Reviews. Neuroscience, 2022
Molecular determinants and modifiers of Matrin-3 toxicity, condensate dynamics, and droplet morphology.
Sprunger ML et al.
Iscience, 2022
Duplication of exons 15 and 16 in Matrin-3: a phenotype bridging amyotrophic lateral sclerosis and immune-mediated disorders.
Caputo M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
MATR3 haploinsufficiency and early-onset neurodegeneration.
Zech M et al.
Brain : a Journal of Neurology, 2021
MATR3 F115C knock-in mice do not exhibit motor defects or neuropathological features of ALS.
van Bruggen R et al.
Biochemical and Biophysical Research Communications, 2021
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
Muratet F et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Matrin 3 in neuromuscular disease: physiology and pathophysiology.
Malik AM et al.
Jci Insight, 2021
Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes.
Medina DX et al.
Stem Cell Research, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease.
Cavalli M et al.
Frontiers in Neurology, 2021
Matrin3: Disorder and ALS Pathogenesis.
Salem A et al.
Frontiers in Molecular Biosciences, 2021
Intronic Determinants Coordinate Charme lncRNA Nuclear Activity through the Interaction with MATR3 and PTBP1.
Desideri F et al.
Cell Reports, 2020
Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred.
Saez-Atienzar S et al.
Neurology, 2020
Selective neuronal degeneration in MATR3 S85C knock-in mouse model of early-stage ALS.
Kao CS et al.
Nature Communications, 2020
Knockdown of genes involved in axonal transport enhances the toxicity of human neuromuscular disease-linked MATR3 mutations in Drosophila.
Zhao M et al.
Febs Letters, 2020
RNA-recognition motif in Matrin-3 mediates neurodegeneration through interaction with hnRNPM.
Ramesh N et al.
Acta Neuropathologica Communications, 2020
Role of RNA Binding Proteins with prion-like domains in muscle and neuromuscular diseases.
Picchiarelli G et al.
Cell Stress, 2020
Dysregulation of RNA-Binding Proteins in Amyotrophic Lateral Sclerosis.
Xue YC et al.
Frontiers in Molecular Neuroscience, 2020
Case Report: Early-Onset Behavioral Variant Frontotemporal Dementia in Patient With Retrotransposed Full-Length Transcript of Matrin-3 Variant 5.
Castro M et al.
Frontiers in Neurology, 2020
Theme 3 In vitro experimental models.
Yang S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019
A mutant MATR3 mouse model to explain multisystem proteinopathy.
Zhang X et al.
The Journal of Pathology, 2019
N-terminal sequences in matrin 3 mediate phase separation into droplet-like structures that recruit TDP43 variants lacking RNA binding elements.
Gallego-Iradi MC et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2019
Analysis of spinal and muscle pathology in transgenic mice overexpressing wild-type and ALS-linked mutant MATR3.
Moloney C et al.
Acta Neuropathologica Communications, 2018
Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation.
Pollini D et al.
Stem Cell Research, 2018
RNA-Binding Proteins in Amyotrophic Lateral Sclerosis.
Zhao M et al.
Molecules and Cells, 2018
Matrin 3-dependent neurotoxicity is modified by nucleic acid binding and nucleocytoplasmic localization.
Malik AM et al.
Elife, 2018