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NEB encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. Zusätzlich bieten wir Ihnen Nebulin Antikörper (22) und und viele weitere Produktgruppen zu diesem Protein an.
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neb zebrafish mirror the genetic, clinical and pathological aspects of nemaline myopathy due to NEB mutation.
NEB gene should be included in genetic panels for fetal akinesia/arthrogryposis multiplex congenital cases.
We examined a Chinese strabismus (zeige VANGL2 ELISA Kits) pedigree with the parents unaffected and 2 offspring affected. Whole-exome sequencing and bioinformatics filtering identified 2 variants including Abelson helper integration site 1 (AHI1 (zeige AHI1 ELISA Kits)) gene and nebulin (NEB) gene. c.A914G mutation was found in nebulin (NEB) gene.
Shorter than normal thin filament length contributes to the impaired force generation in patients with thin filament myopathy, but only in those who harbor specific mutations in NEB or ACTA1 (zeige ACTA1 ELISA Kits).
New NEB mutations were found in 8 of 10 patients with nemaline myopathy.
recurrent NEB TRI (zeige VANGL2 ELISA Kits) copy number variation was found in 13% of the families with nemaline myopathy and in 10% of the controls.
Prominent foot-drop was associated with NEB gene mutations in three patients with core-rod myopathy.
Identified two novel, compound-heterozygous variants in the nebulin gene after a 30 year clinical history, which cause a classical childhood type of nemaline myopathy.
Since the patients are characterized by generalized muscle weakness together with neurodevelopmental phenotypes, it is suggested that NEB mutations could manifest more diverse phenotypes than those previously described.
indicates that nebulin tolerates substantial changes in its amino acid sequence, providing an explanation as to why variants in such a large gene result in relatively rare disorders
Mutations in NEB gene is associated with stress fracture.
Nebulin was solubilized by a salt solution containing 1 M urea and purified by DEAE-Toyopearl column chromatography via 4 M urea elution; imaging showed entangled knit-like particles. The purified nebulin bound to actin filaments to form loose bundles.
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity
Nebulin SH3 domain (zeige ITSN1 ELISA Kits) protects against eccentric contraction-induced injury and possibly plays a role in fine-tuning the excitation-contraction coupling mechanism.
Pnn (zeige PNN ELISA Kits) downregulation in skeletal muscle causes a muscular dystrophic phenotype associated with NEB deficiency and the CCD (zeige RUNX2 ELISA Kits) domain is incapable of replacing full length Pnn (zeige PNN ELISA Kits) in terms of functional capacity.
fast skeletal muscle troponin activation increases force at submaximal activation in both wildtype and NEB knockout fiber bundles.
findings show the nebulin-N-WASP (zeige WASL ELISA Kits) complex caused actin nucleation for unbranched actin filament formation from the Z bands without the Arp2 (zeige AICDA ELISA Kits)/3 complex
Results support the view that nebulin plays an important role in skeletal muscle Z-disc width regulation.
The functional roles of nebulin extend beyond thin filament length regulation and include roles in maintaining physiological Z-disk widths and myofibrillar connectivity.
LIM domain and nebulin-repeats to the interaction of Lasp-2 with actin filaments and focal adhesions
These results indicate that, in the absence of nebulin, the attachment probability of the myosin motors to actin is decreased, revealing a direct role for nebulin in promoting strong actomyosin interactions responsible for force and power production.
a means for nebulin-like motifs to participate in the allosteric regulation of striated (zeige NSDHL ELISA Kits) muscle contraction
Results show that expression of nebulin decreased during the late fattening stage of of hanwoo steers.
This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy.
, nemaline myopathy type 2