MATR3's Role beyond the Nuclear Matrix: From Gene Regulation to Its Implications in Amyotrophic Lateral Sclerosis and Other Diseases

JR Santos, J Park - Cells, 2024 - mdpi.com
Matrin-3 (MATR3) was initially discovered as a component of the nuclear matrix about thirty
years ago. Since then, accumulating studies have provided evidence that MATR3 not only …

The role of Matrin-3 in physiology and its dysregulation in disease

ML Sprunger, ME Jackrel - Biochemical Society Transactions, 2024 - portlandpress.com
The dysfunction of many RNA-binding proteins (RBPs) that are heavily disordered, including
TDP-43 and FUS, are implicated in amyotrophic lateral sclerosis and frontotemporal …

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 …

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) …

MATR3 P154S knock-in mice do not exhibit motor, muscle or neuropathologic features of ALS

M Dominick, N Houchins, V Venugopal… - Biochemical and …, 2023 - Elsevier
Matrin 3 is a nuclear matrix protein that has many roles in RNA processing including splicing
and transport of mRNA. Many missense mutations in the Matrin 3 gene (MATR3) have been …

Selective loss of MATR3 in spinal interneurons, upper motor neurons and hippocampal CA1 neurons in a MATR3 S85C knock-in mouse model of amyotrophic lateral …

J You, K Maksimovic, J Lee, M Khan, R Masuda, J Park - Biology, 2022 - mdpi.com
Simple Summary Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease
affecting the motor neurons in the brain and spinal cord. Mutations in the gene Matr3 have …

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 …

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 …

[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 levels and function in a calcium-dependent manner through calpain cleavage and calmodulin binding

AM Malik, JJ Wu, CA Gillies, QA Doctrove, X Li… - BioRxiv, 2022 - biorxiv.org
RNA-binding protein (RBP) dysfunction is a fundamental hallmark of amyotrophic lateral
sclerosis (ALS) and related neuromuscular disorders. Abnormal neuronal excitability is also …