Associated Papers
Common Diseases in Clinical Cohorts - Not Always What They Seem.
Rahimov F et al.
The New England Journal of Medicine, 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
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 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 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
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
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
Molecular determinants and modifiers of Matrin-3 toxicity, condensate dynamics, and droplet morphology.
Sprunger ML et al.
Iscience, 2022
MATR3 haploinsufficiency and early-onset neurodegeneration.
Zech M et al.
Brain : a Journal of Neurology, 2021
Matrin 3 in neuromuscular disease: physiology and pathophysiology.
Malik AM et al.
Jci Insight, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 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
Role of RNA Binding Proteins with prion-like domains in muscle and neuromuscular diseases.
Picchiarelli G et al.
Cell Stress, 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
Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients.
Narain P et al.
Neurogenetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Matrin 3-dependent neurotoxicity is modified by nucleic acid binding and nucleocytoplasmic localization.
Malik AM et al.
Elife, 2018
Characterization of gene regulation and protein interaction networks for Matrin 3 encoding mutations linked to amyotrophic lateral sclerosis and myopathy.
Iradi MCG et al.
Scientific Reports, 2018
Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.
Chia R et al.
The Lancet. Neurology, 2018
ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export.
Boehringer A et al.
Scientific Reports, 2017
Matrin 3 variants are frequent in Italian ALS patients.
Marangi G et al.
Neurobiology of Aging, 2017
Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype.
Moloney C et al.
Acta Neuropathologica Communications, 2016
Heterogeneity of Matrin 3 in the developing and aging murine central nervous system.
Rayaprolu S et al.
The Journal of Comparative Neurology, 2016
Amyotrophic lateral sclerosis: recent genetic highlights.
White MA et al.
Current Opinion in Neurology, 2016
Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.
Palmio J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.
Sabatelli M et al.
Brain Pathology (zurich, Switzerland), 2016
Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis.
Lin KP et al.
Neurobiology of Aging, 2015
Genetic architecture of ALS in Sardinia.
Borghero G et al.
Neurobiology of Aging, 2014
Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.
Millecamps S et al.
Neurobiology of Aging, 2014
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
Johnson JO et al.
Nature Neuroscience, 2014
[Clinical statistics of myasthenia gravis, progressive muscular dystrophy and amyotrophic lateral sclerosis].
Unoya K
[kango Gijutsu] : [nursing Technique], 1973
Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.
Sharma R et al.
Mutation Research. Reviews in Mutation Research, 0