Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function [PDF]
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
doaj +4 more sources
A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region. [PDF]
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
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
Serum Proteomics Provides Novel Biomarkers of Inflammation, Tissue Injury, and Therapeutic Response in Experimental Chagas Disease [PDF]
MicroorganismsChagas disease remains a major public health challenge and still lacks reliable serum biomarkers capable of accurately reflecting disease progression and therapeutic response.
Eloan Mendes Vieira +7 more
doaj +2 more sources
Coordinated Bone–Muscle Axis Association in South China Carp (Cyprinus carpio rubrofuscus) with Low Bone Mineral Density: An Integrated Analysis of Muscle Texture, Nutrition, Ultrastructure, and Proteomics [PDF]
FoodsSouth China carp (Cyprinus carpio rubrofuscus) with low bone mineral density (BMD), characterized by softened bones and wavy ribs, were identified during paddy field aquaculture.
Kangdi Zhao +6 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 +1 more source
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
doaj +1 more source
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 +1 more source
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
doaj +1 more source
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
doaj +1 more source