Varaico: Literature-Extracted Genetic Variants

Gene:MATR3
Variant:p.P154S
Back to variants list

MATR3

NM_018834.6:p.P154S

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-s005.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

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

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

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

33854469 (PubMed )
Supplement: Table_1.XLSX › Genes

Matrin3: Disorder and ALS Pathogenesis.

Salem A et al.

Frontiers in Molecular Biosciences, 2021

Molecular and Cellular Mechanisms Affected in ALS.

Le Gall L et al.

Journal of Personalized Medicine, 2020

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

Ramesh N et al.

Acta Neuropathologica Communications, 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

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

Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation.

Pollini D et al.

Stem Cell Research, 2018

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

Malik AM et al.

Elife, 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

Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype.

Moloney C et al.

Acta Neuropathologica Communications, 2016

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

Sabatelli M et al.

Brain Pathology (zurich, Switzerland), 2016

Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis.

Lin KP et al.

Neurobiology of Aging, 2015

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Morgan S et al.

Neurobiology of Aging, 2015

Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.

Millecamps S 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."