[HTML][HTML] Matrin 3 in neuromuscular disease: physiology and pathophysiology

AM Malik, SJ Barmada - JCI insight, 2021 - ncbi.nlm.nih.gov
RNA-binding proteins (RBPs) are essential factors required for the physiological function of
neurons, muscle, and other tissue types. In keeping with this, a growing body of genetic …

Neuronal activity regulates Matrin 3 abundance and function in a calcium-dependent manner through calpain-mediated cleavage and calmodulin binding

AM Malik, JJ Wu, CA Gillies… - Proceedings of the …, 2023 - National Acad Sciences
RNA-binding protein (RBP) dysfunction is a fundamental hallmark of amyotrophic lateral
sclerosis (ALS) and related neuromuscular disorders. Abnormal neuronal excitability is also …

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

N Ramesh, S Kour, EN Anderson… - Acta neuropathologica …, 2020 - Springer
Background Amyotrophic lateral sclerosis (ALS) is an adult-onset, fatal neurodegenerative
disease characterized by progressive loss of upper and lower motor neurons. While …

MATR3 pathogenic variants differentially impair its cryptic splicing repression function

M Khan, XXL Chen, M Dias, JR Santos, S Kour… - FEBS …, 2024 - Wiley Online Library
Matrin‐3 (MATR3) is an RNA‐binding protein implicated in neurodegenerative and
neurodevelopmental diseases. However, little is known regarding the role of MATR3 in …

Characterization of gene regulation and protein interaction networks for Matrin 3 encoding mutations linked to amyotrophic lateral sclerosis and myopathy

MCG Iradi, JC Triplett, JD Thomas, R Davila… - Scientific reports, 2018 - nature.com
To understand how mutations in Matrin 3 (MATR3) cause amyotrophic lateral sclerosis
(ALS) and distal myopathy, we used transcriptome and interactome analysis, coupled with …

Heterogeneity of Matrin 3 in the developing and aging murine central nervous system

S Rayaprolu, S D'Alton, K Crosby… - Journal of …, 2016 - Wiley Online Library
Mutations in the MATR3 gene encoding the nucleotide binding protein Matrin 3 have
recently been identified as causing a subset of familial amyotrophic lateral sclerosis (fALS) …

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

AM Malik, RA Miguez, X Li, YS Ho, EL Feldman… - elife, 2018 - elifesciences.org
Abnormalities in nucleic acid processing are associated with the development of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Mutations in Matrin …

[HTML][HTML] Role of RNA Binding Proteins with prion-like domains in muscle and neuromuscular diseases

G Picchiarelli, L Dupuis - Cell stress, 2020 - ncbi.nlm.nih.gov
A number of neuromuscular and muscular diseases, including amyotrophic lateral sclerosis
(ALS), spinal muscular atrophy (SMA) and several myopathies, are associated to mutations …

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

CS Leblond, Z Gan-Or, D Spiegelman, SB Laurent… - Neurobiology of …, 2016 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder
characterized by an extensive loss of motor neurons in the primary motor cortex, brainstem …

Matrin3: disorder and ALS pathogenesis

A Salem, CJ Wilson, BS Rutledge, A Dilliott… - Frontiers in Molecular …, 2022 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the
degeneration of both upper and lower motor neurons in the brain and spinal cord. ALS is …