Varaico: Literature-Extracted Genetic Variants

Gene:MATR3
Variant:p.V394M
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MATR3

NM_018834.6:p.V394M

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

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

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

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

Amyotrophic lateral sclerosis: recent genetic highlights.

White MA et al.

Current Opinion in Neurology, 2016

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.

Leblond CS et al.

Neurobiology of Aging, 2016

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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."