Cellular and Animal Models of Striated Muscle Laminopathies [PDF]
Cells, 2019 The lamin A/C (LMNA) gene codes for nuclear intermediate filaments constitutive of the nuclear lamina. LMNA has 12 exons and alternative splicing of exon 10 results in two major isoforms—lamins A and C.
Hannah A. Nicolas +2 more
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Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies [PDF]
Cells, 2020 Striated muscle laminopathies are cardiac and skeletal muscle conditions caused by mutations in the lamin A/C gene (LMNA). LMNA codes for the A-type lamins, which are nuclear intermediate filaments that maintain the nuclear structure and nuclear ...
Hannah A. Nicolas +9 more
doaj +10 more sources
The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies [PDF]
Cell Reports, 2021 Summary: Cofilins are important for the regulation of the actin cytoskeleton, sarcomere organization, and force production. The role of cofilin-1, the non-muscle-specific isoform, in muscle function remains unclear.
Nicolas Vignier +21 more
doaj +14 more sources
Need for NAD+: Focus on Striated Muscle Laminopathies [PDF]
Cells, 2020 Laminopathies are a heterogeneous group of rare diseases caused by genetic mutations in the LMNA gene, encoding A-type lamins. A-type lamins are nuclear envelope proteins which associate with B-type lamins to form the nuclear lamina, a meshwork ...
Déborah Cardoso, Antoine Muchir
doaj +6 more sources
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction [PDF]
Cells, 2020 Laminopathies are a wide and heterogeneous group of rare human diseases caused by mutations of the LMNA gene or related nuclear envelope genes. The variety of clinical phenotypes and the wide spectrum of histopathological changes among patients carrying ...
Cristina Cappelletti +20 more
doaj +11 more sources
The Pathogenesis and Therapies of Striated Muscle Laminopathies [PDF]
Frontiers in Physiology, 2018 Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition characterized by early contractures, skeletal muscle weakness, and cardiomyopathy. During the last 20 years, various genetic approaches led to the identification of causal genes of EDMD and ...
Astrid Brull +5 more
doaj +6 more sources
Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA. [PDF]
PLoS Genetics, 2023 Striated muscle laminopathies caused by missense mutations in the nuclear lamin gene LMNA are characterized by cardiac dysfunction and often skeletal muscle defects.
Ellen F Gregory +6 more
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Eliminating elevated p53 signaling fails to rescue skeletal muscle defects or extend survival in lamin A/C-deficient mice [PDF]
Cell Death DiscoveryLamins A and C, encoded by the LMNA gene, are nuclear intermediate filaments that provide structural support to the nucleus and contribute to chromatin organization and transcriptional regulation.
Tyler J. Kirby +3 more
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Creatine and l-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish [PDF]
Scientific ReportsLamin A/C gene (LMNA) mutations contribute to severe striated muscle laminopathies, affecting cardiac and skeletal muscles, with limited treatment options.
Shao-Wei Pan +7 more
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Genetic and Pathophysiological Basis of Cardiac and Skeletal Muscle Laminopathies [PDF]
GenesGirish C Melkani
exaly +2 more sources