nebulin

01/01/2020 - "Besides unravelling the biology of nebulin, these studies are particularly helpful in understanding the patho-mechanism of myopathies caused by NEB mutations, providing knowledge which constitutes the critical first step towards the development of therapeutic interventions. "
01/01/2021 - "The clinical and histological picture resembled that of a family with a slightly smaller deletion, and that in patients with recessively inherited distal forms of nebulin-caused myopathy. "
01/01/2019 - "The NebΔ163-165 mouse model emphasizes that nebulin's C-terminus is necessary for proper sarcomeric development and shows that its loss is sufficient to induce myopathy."
05/01/2015 - "Whole body muscle MRI showed a muscle involvement as previously described in nebulin-associated myopathies. "
12/01/2014 - "Mutation update: the spectra of nebulin variants and associated myopathies."

10/09/2015 - "The results revealed that denervation induced muscle atrophy is accompanied by decreased nebulin content in a time-dependent manner. "
01/01/2020 - "Adult nebulin-deficient mice displayed severe muscle atrophy and weakness in vivo related to a low NEB content but an improved fatigue resistance due to a slower contractile phenotype."
10/01/2017 - "These changes were accompanied by reduced titin and nebulin contents, titin hyperphosphorylation, and development of hindlimb muscle atrophy in the alcohol-fed rats."
01/01/2022 - "The Effects of Branched-Chain Amino Acids on the Akt/mTOR Pathway and Nebulin Protein in Joint Fixation-Induced Muscle Atrophy."
03/01/2001 - "Muscle atrophy appears to be caused by changes in mRNA levels of specific regulators of proteolysis, protein synthesis, and contractile apparatus assembling, such as polyubiquitin, elongation factor 2, and nebulin. "

01/01/2020 - "Nebulin deficiency was also associated with higher resistance to fatigue and increased MHC I content. "
01/01/2020 - "Adult nebulin-deficient mice displayed severe muscle atrophy and weakness in vivo related to a low NEB content but an improved fatigue resistance due to a slower contractile phenotype."

01/01/2017 - "To investigate diaphragm contractility, in the present study we took advantage of a mouse model for nebulin-based nemaline myopathy that we recently developed. "
02/01/2023 - "Clinical Manifestation of Nebulin-Associated Nemaline Myopathy."
01/01/2023 - "NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy."
01/01/2022 - "Our structures support the role of nebulin as a thin filament "molecular ruler" and provide a molecular basis for studying nemaline myopathies."
01/01/2021 - "Mutations in nebulin gene (NEB) are known to be responsible for about 50% of nemaline myopathy cases. "

05/01/2010 - "Thus, the present study provides important novel insights into the pathogenesis of muscle weakness in nebulin-based NM."
07/01/2009 - "Thus, the present study is the first to show a distinct genotype-functional phenotype correlation in patients with NM due to a nebulin mutation, and provides evidence for the notion that dysregulated thin filament length contributes to muscle weakness in NM patients with nebulin mutations. "
07/01/2009 - "Furthermore, a striking similarity between the contractile and structural phenotypes of nebulin-deficient mouse muscle and human NM-NEB muscle was observed, indicating that the nebulin knockout model is well suited for elucidating the functional basis of muscle weakness in NM and for the development of treatment strategies."
06/19/2006 - "Nebulin-deficient mice die within 8-11 d after birth, with symptoms including decreased milk intake and muscle weakness. "
01/01/2021 - "We report the first mosaic mutation, a deletion of exons 11-107, identified in the nebulin gene in a Finnish patient presenting with a predominantly distal congenital myopathy and asymmetric muscle weakness. "