Varaico: Literature-Extracted Genetic Variants

Gene:MATR3
Variant:p.A24A
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MATR3

NM_018834.6:p.A24A

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-antisense LINE1 RNA meshwork scaffolds higher-order chromatin organization.

Zhang Y et al.

Embo Reports, 2023

37381832 (PubMed )
Supplement: EMBR-24-e57550-s005.pdf

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

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.

Sabatelli M et al.

Brain Pathology (zurich, Switzerland), 2016

Genotype-phenotype correlations of amyotrophic lateral sclerosis.

Li HF et al.

Translational Neurodegeneration, 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."