Associated Papers
Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders.
Xia X et al.
Degenerative Neurological and Neuromuscular Disease, 2026
CRISPR/Cas9 a genomic engineering technology for treatment in ALS mouse models.
Khan H et al.
Regenerative Therapy, 2025
Concurrent nanotherapeutics and regulatory updates for the management of amyotrophic lateral sclerosis: a focused review for orphan drug (Tofersen).
Kumar A et al.
Orphanet Journal of Rare Diseases, 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
Autosomal dominant distal myopathy due to p.Ser85Cys mutation in the MATR3 gene: Novel case series and literature review.
Chitimus DM et al.
Revue Neurologique, 2025
ALS-associated RNA-binding proteins promote UNC13A transcription through REST downregulation.
Watanabe Y et al.
The Embo Journal, 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
Cerebellum in neurodegenerative diseases: Advances, challenges, and prospects.
Liu G et al.
Iscience, 2024
Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.
Findlay AR
Disease Models & Mechanisms, 2024
Knockout of Dectin-1 does not modify disease onset or progression in a MATR3 S85C knock-in mouse model of ALS.
You J et al.
Heliyon, 2024
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
MATRIN3 deficiency triggers autoinflammation via cGAS-STING activation.
Islam Z et al.
Biorxiv : the Preprint Server for Biology, 2024
MATR3 pathogenic variants differentially impair its cryptic splicing repression function.
Khan M et al.
Febs Letters, 2024
Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series.
Murtazina A et al.
Frontiers in Genetics, 2024
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Nallamilli BRR et al.
Annals of Clinical and Translational Neurology, 2023
MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy.
Runfola V et al.
Cell Reports, 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
Neuronal activity regulates Matrin 3 abundance and function in a calcium-dependent manner through calpain-mediated cleavage and calmodulin binding.
Malik AM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.
Chompoopong P et al.
Annals of Clinical and Translational Neurology, 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
Cerebellar pathology in motor neuron disease: neuroplasticity and neurodegeneration.
Chipika RH et al.
Neural Regeneration Research, 2022
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation.
Manini A et al.
Neurology. Genetics, 2022
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
Selective Loss of MATR3 in Spinal Interneurons, Upper Motor Neurons and Hippocampal CA1 Neurons in a MATR3 S85C Knock-In Mouse Model of Amyotrophic Lateral Sclerosis.
You J et al.
Biology, 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
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
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
Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred.
Saez-Atienzar S et al.
Neurology, 2020
Panorama of the distal myopathies.
Savarese M et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
A protein assembly mediates Xist localization and gene silencing.
Pandya-Jones A et al.
Nature, 2020
Selective neuronal degeneration in MATR3 S85C knock-in mouse model of early-stage ALS.
Kao CS et al.
Nature Communications, 2020