Varaico: Literature-Extracted Genetic Variants

Gene:MATR3
Variant:p.S208T
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MATR3

NM_018834.6:p.S208T

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

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

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

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

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

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

Destination Amyotrophic Lateral Sclerosis.

Keon M et al.

Frontiers in Neurology, 2021

33854469 (PubMed )
Supplement: Table_1.XLSX › Genes

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

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

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

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

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

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

Sabatelli M et al.

Brain Pathology (zurich, Switzerland), 2016

Genetic architecture of ALS in Sardinia.

Borghero G 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

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