Results 1 to 10 of about 105 (89)
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
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A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.
PLoS ONE, 2022 The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection ...
Lydia Sagath +4 more
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Nemaline Myopathy: A Case Report
Case Reports in Neurology, 2021 Generalized weakness in the pediatric and adolescent population is caused by many disorders that affect the neuromuscular axis. As next-generation sequencing (NGS) is becoming of high yield in replacing more invasive procedures, that is, muscle and nerve
Adnan A. Mubaraki
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New experimental possibilities for statin myopathy diagnosing
Бюллетень сибирской медицины, 2021 Aim. To identify the relationships between structural proteins of myocytes, as well as indicators of antioxidant defense and metabolites of glycolysis against the background of using statins in animals in the experiment for clarifying the diagnosis of ...
E. V. Vinogradova +2 more
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Effect of Lysosomal Cathepsin L on Proteolysis of Beef Myofibrillar Proteins In Vivo and In Vitro
Foods, 2022 This study investigated the effects of cathepsin L on proteolysis of beef myofibrillar proteins in vivo and in vitro. Results indicated that cathepsin L affected the degradation of desmin and troponin-T during postmortem aging, and the extent of ...
Baowei Cui +3 more
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Skeletal Muscle, 2020 Background Nebulin is a critical thin filament-binding protein that spans from the Z-disk of the skeletal muscle sarcomere to near the pointed end of the thin filament.
Frank Li +7 more
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An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant
eNeurologicalSci, 2020 Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later ...
Masahiro Ohara +7 more
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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
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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
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Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency. [PDF]
PLoS ONE, 2013 The effect of the fast skeletal muscle troponin activator, CK-2066260, on calcium-induced force development was studied in skinned fast skeletal muscle fibers from wildtype (WT) and nebulin deficient (NEB KO) mice.
Eun-Jeong Lee +7 more
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