The sarcomeric protein nebulin: another multifunctional giant in charge of muscle strength optimization [PDF]
Frontiers in Physiology, 2012 The sliding filament model of the sarcomere was developed more than half a century ago. This model, consisting only of thin and thick filaments, has been successful in explaining many, but not all, features of skeletal muscle.
Coen eOttenheijm +3 more
doaj +28 more sources
A Circular RNA Generated from Nebulin (NEB) Gene Splicing Promotes Skeletal Muscle Myogenesis in Cattle as Detected by a Multi‐Omics Approach [PDF]
Advanced Science, 2023 Cattle and the draught force provided by its skeletal muscle have been integral to agro‐ecosystems of agricultural civilization for millennia. However, relatively little is known about the cattle muscle functional genomics (including protein coding genes,
Kongwei Huang +19 more
doaj +4 more sources
Muscle histopathology in nebulin-related nemaline myopathy : ultrastrastructural findings correlated to disease severity and genotype [PDF]
, 2014 Peer ...
Bellance, Remi +20 more
core +6 more sources
Contribution of the LIM domain and nebulin-repeats to the interaction of Lasp-2 with actin filaments and focal adhesions. [PDF]
PLoS ONE, 2009 Lasp-2 binds to actin filaments and concentrates in the actin bundles of filopodia and lamellipodia in neural cells and focal adhesions in fibroblastic cells.
Hiroyuki Nakagawa +7 more
doaj +3 more sources
Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds. [PDF]
PLoS ONE, 2015 Several dog breeds are susceptible to developing primary angle closure glaucoma (PACG), which suggests a genetic basis for the disease. We have identified a four-generation Basset Hound pedigree with characteristic autosomal recessive PACG that closely ...
Dina F Ahram +5 more
doaj +3 more sources
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy [PDF]
Acta Neuropathologica Communications, 2018 Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible ...
Tamar E. Sztal +5 more
doaj +2 more sources
Frontiers in Neurology, 2021 Nemaline myopathy is a rare disorder affecting the muscle sarcomere. Mutations in nebulin gene (NEB) are known to be responsible for about 50% of nemaline myopathy cases.
Nathalie Laflamme +7 more
doaj +2 more sources
Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion [PDF]
Skeletal MuscleBiallelic pathogenic variants in the nebulin (NEB) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in NEB.
Zachary Coulson +7 more
doaj +2 more sources
Неврология, нейропсихиатрия, психосоматика, 2019 Objective: to assess the structural and functional state of skeletal muscles in the hip, as well as changes in the content of the sarcomere cytoskeleton proteins titin and nebulin and their phosphorylation level in patients with chronic alcohol ...
O. E. Zinovyeva +8 more
doaj +3 more sources
Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies [PDF]
Antioxidants, 2023 Nemaline myopathy (NM) is one of the most common forms of congenital myopathy and it is identified by the presence of “nemaline bodies” (rods) in muscle fibers by histopathological examination.
Rocío Piñero-Pérez +12 more
doaj +2 more sources