study probes how nebulin affects muscle function.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219685 | PMC |
| http://dx.doi.org/10.1085/jgp.201812267 | DOI Listing |
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Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
Acta Neuropathol
April 2024
Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA.
Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in physiological processes such as regulating thin filament length (TFL), cross-bridge cycling, and myofibril alignment. Pathogenic variants in the nebulin gene (NEB) cause NEB-based nemaline myopathy (NEM2), a genetically heterogeneous disorder characterized by hypotonia and muscle weakness, currently lacking curative therapies. In this study, we examined a cohort of ten NEM2 patients, each with unique pathogenic variants, aiming to understand their impact on mRNA, protein, and functional levels.
View Article and Find Full Text PDFNebulin, a critical protein of the skeletal muscle thin filament, plays important roles in physiological processes such as regulating thin filament length (TFL), cross-bridge cycling, and myofibril alignment. Mutations in the nebulin gene ( ) cause NEB-based nemaline myopathy (NEM2), a genetically heterogeneous disorder characterized by hypotonia and muscle weakness, currently lacking therapies targeting the underlying pathological mechanisms. In this study, we examined a cohort of ten NEM2 patients, each with unique mutations, aiming to understand their impact on mRNA, protein, and functional levels.
View Article and Find Full Text PDFArray Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the Segmental Duplication Region.
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Folkhälsan Research Center, Biomedicum, 00290 Helsinki, Finland.
Intragenic segmental duplication regions are potential hotspots for recurrent copy number variation and possible pathogenic aberrations. Two large sarcomeric genes, nebulin and titin, both contain such segmental duplication regions. Using our custom Comparative Genomic Hybridisation array, we have previously shown that a gain or loss of more than one copy of the repeated block of the nebulin triplicate region constitutes a recessive pathogenic mutation.
View Article and Find Full Text PDFTriggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism.
Nat Commun
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Department of Cellular and Molecular Medicine, University of Arizona, 1656 East Mabel Street, Tucson, AZ, 85724-5217, USA.
Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle sarcomere. Compound-heterozygous mutations in the nebulin gene (NEB) cause typical nemaline myopathy (NM), a muscle disorder characterized by muscle weakness with limited treatment options. We created a mouse model with a missense mutation p.
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