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Matrin 3 in neuromuscular disease: physiology and pathophysiology
Ahmed M. Malik, Sami J. Barmada
Ahmed M. Malik, Sami J. Barmada
Published January 11, 2021
Citation Information: JCI Insight. 2021;6(1):e143948. https://doi.org/10.1172/jci.insight.143948.
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Matrin 3 in neuromuscular disease: physiology and pathophysiology

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Abstract

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, clinical, and pathological evidence indicates that RBP dysfunction and/or gene mutation leads to neurodegeneration and myopathy. Here, we summarize the current understanding of matrin 3 (MATR3), a poorly understood RBP implicated not only in ALS and frontotemporal dementia but also in distal myopathy. We begin by reviewing MATR3’s functions, its regulation, and how it may be involved in both sporadic and familial neuromuscular disease. We also discuss insights gleaned from cellular and animal models of MATR3 pathogenesis, the links between MATR3 and other disease-associated RBPs, and the mechanisms underlying RBP-mediated disorders.

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Ahmed M. Malik, Sami J. Barmada

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