Mutation-specific effects on thin filament length in thin filament myopathy
نویسندگان
چکیده
منابع مشابه
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.
Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle dysfunction and is thought to be a disease of the sarcomere thin filament. Recently, several proteins of unknown function have been implicated in NM, but the mechanistic basis of their contribution to disease remains unresolved. Here, we demonstrated that loss of a muscle-specific protein, kelch-like family member ...
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Nemaline myopathy (NM) is the most common non-dystrophic congenital myopathy. Clinically the most important feature of NM is muscle weakness; however, the mechanisms underlying this weakness are poorly understood. Here, we studied the muscular phenotype of NM patients with a well-defined nebulin mutation (NM-NEB), using a multidisciplinary approach to study thin filament length regulation and m...
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Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic mutations have been described in 9 genes to date, but the genetic basis remains unknown in many cases. Here, using an approach that combined whole-exome sequencing (WES) and Sanger sequencing, we identified homozygous or comp...
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In humans, congenital myopathy-linked tropomyosin mutations lead to skeletal muscle dysfunction, but the cellular and molecular mechanisms underlying such dysfunction remain obscure. Recent studies have suggested a unifying mechanism by which tropomyosin mutations partially inhibit thin filament activation and prevent proper formation and cycling of myosin cross-bridges, inducing force deficits...
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We investigated the dynamics of isolated Mytilus anterior byssus retractor muscle thick filaments manipulated by nanofabricated siliconnitride levers. Single thick filaments were suspended between the tips of two microbeams oriented perpendicular to the filament’s axis. One was a deflectable cantilever and the other a stationary beam (Figure 1). Axial stress was applied by translating the base ...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2016
ISSN: 0364-5134
DOI: 10.1002/ana.24654