Dystrophins, utrophins, and associated scaffolding complexes: role in mammalian brain and implications for therapeutic strategies.

Journal of Biomedicine & Biotechnology
Caroline Perronnet, C Vaillend

Abstract

Two decades of molecular, cellular, and functional studies considerably increased our understanding of dystrophins function and unveiled the complex etiology of the cognitive deficits in Duchenne muscular dystrophy (DMD), which involves altered expression of several dystrophin-gene products in brain. Dystrophins are normally part of critical cytoskeleton-associated membrane-bound molecular scaffolds involved in the clustering of receptors, ion channels, and signaling proteins that contribute to synapse physiology and blood-brain barrier function. The utrophin gene also drives brain expression of several paralogs proteins, which cellular expression and biological roles remain to be elucidated. Here we review the structural and functional properties of dystrophins and utrophins in brain, the consequences of dystrophins loss-of-function as revealed by numerous studies in mouse models of DMD, and we discuss future challenges and putative therapeutic strategies that may compensate for the cognitive impairment in DMD based on experimental manipulation of dystrophins and/or utrophins brain expression.

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Feb 26, 2013·Cellular and Molecular Neurobiology·Wanda M SnowJudy E Anderson
Jul 1, 2010·Molecular Therapy : the Journal of the American Society of Gene Therapy·Cyrille VaillendElise Peltekian
Feb 22, 2012·Human Molecular Genetics·Caroline PerronnetCyrille Vaillend
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Dec 15, 2019·Molecular Neurobiology·Michael Naidoo, Karen Anthony

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Methods Mentioned

BETA
glycosylation
antisense oligonucleotides

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