Varaico: Literature-Extracted Genetic Variants

Gene:MATR3
Variant:p.S707L
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MATR3

NM_018834.6:p.S707L

Associated Papers

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

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

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

37381832 (PubMed )
Supplement: EMBR-24-e57550-s003.pdf

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

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

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

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.

Grassano M et al.

Neurology, 2021

Matrin 3 in neuromuscular disease: physiology and pathophysiology.

Malik AM et al.

Jci Insight, 2021

Matrin3: Disorder and ALS Pathogenesis.

Salem A et al.

Frontiers in Molecular Biosciences, 2021

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list

RNA-recognition motif in Matrin-3 mediates neurodegeneration through interaction with hnRNPM.

Ramesh N et al.

Acta Neuropathologica Communications, 2020

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

Matrin 3-dependent neurotoxicity is modified by nucleic acid binding and nucleocytoplasmic localization.

Malik AM et al.

Elife, 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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."