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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 …
autonomous neurodegenerative disease characterized by upper and lower motor neuron …
Matrin 3 in neuromuscular disease: physiology and pathophysiology
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 …
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 …
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
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 …
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 …
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 …
sclerosis (ALS) and related neuromuscular disorders. Abnormal neuronal excitability is also …
The role of Matrin-3 in physiology and its dysregulation in disease
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 …
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 …
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
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 …
(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
MATR3 is an RNA-binding protein implicated in neurodegenerative and
neurodevelopmental diseases. However, little is known regarding the role of MATR3 in …
neurodevelopmental diseases. However, little is known regarding the role of MATR3 in …