Nearly 30 years of animal models to study amyotrophic lateral sclerosis: a historical overview and future perspectives

T Bonifacino, RA Zerbo, M Balbi, C Torazza… - International journal of …, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a fatal, multigenic, multifactorial, and non-cell
autonomous neurodegenerative disease characterized by upper and lower motor neuron …

Matrin 3 in neuromuscular disease: physiology and pathophysiology

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

Selective neuronal degeneration in MATR3 S85C knock-in mouse model of early-stage ALS

CS Kao, R van Bruggen, JR Kim, XXL Chen… - Nature …, 2020 - nature.com
Abstract A missense mutation, S85C, in the MATR3 gene is a genetic cause for amyotrophic
lateral sclerosis (ALS). It is unclear how the S85C mutation affects MATR3 function and …

[HTML][HTML] Molecular determinants and modifiers of Matrin-3 toxicity, condensate dynamics, and droplet morphology

ML Sprunger, K Lee, BS Sohn, ME Jackrel - IScience, 2022 - cell.com
Summary Matrin-3 (MATR3) is a DNA-and RNA-binding protein implicated in amyotrophic
lateral sclerosis (ALS), frontotemporal dementia (FTD), and distal myopathy. Here, we report …

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, QA Doctrove, X Li… - Proceedings of the …, 2023 - pnas.org
RNA-binding protein (RBP) dysfunction is a fundamental hallmark of amyotrophic lateral
sclerosis (ALS) and related neuromuscular disorders. Abnormal neuronal excitability is also …

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 …

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 …

[HTML][HTML] MATR3 F115C knock-in mice do not exhibit motor defects or neuropathological features of ALS

R van Bruggen, K Maksimovic, J You, DD Tran… - Biochemical and …, 2021 - Elsevier
The F115C mutation in the MATR3 gene has been linked to amyotrophic lateral sclerosis
(ALS). To determine the pathogenicity of the F115C mutation and the mechanism by which …

Differential effects of MATR3 variants on its cryptic splicing repression function

M Khan, XXL Chen, M Dias, JR Santos, S Kour, J You… - bioRxiv, 2023 - biorxiv.org
MATR3 is an RNA-binding protein implicated in neurodegenerative and
neurodevelopmental diseases. However, little is known regarding the role of MATR3 in …