anti-Nebulin (NEB) Antibodies

Zebrafish Nebulin (NEB) interaction partners

1. neb zebrafish mirror the genetic, clinical and pathological aspects of nemaline myopathy due to NEB mutation.

Human Nebulin (NEB) interaction partners

1. Genes associated with Nemaline Myopathy were sequenced. Four mutations in NEB (c.17779_17780delTA, c.11086A>C, c.21076C>T and c.2310+5G>A) and one mutation in ACTA1 (c.871A>T) were found in four patients. Three of the four mutations in NEB were novel. A cDNA sequencing assay of the novel variants c.17779_17780delTA, c.11086A>C and c.2310+5G>A revealed that the intronic variant c.2310+5G>A affected the splicing process.

2. NEB gene should be included in genetic panels for fetal akinesia/arthrogryposis multiplex congenital cases.

3. We examined a Chinese strabismus 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) gene and nebulin (NEB) gene. c.A914G mutation was found in nebulin (NEB) gene.

4. 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.

5. New NEB mutations were found in 8 of 10 patients with nemaline myopathy.

6. recurrent NEB TRI copy number variation was found in 13% of the families with nemaline myopathy and in 10% of the controls.

7. Prominent foot-drop was associated with NEB gene mutations in three patients with core-rod myopathy.

8. 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.

9. 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.

10. 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

11. Mutations in NEB gene is associated with stress fracture.

12. This study demonistrated that Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity.

13. We identify the SH3 domains of nebulin and nebulette as novel ligands of proline-rich regions of Xin and XIRP2

14. Data suggest that for some filament-forming desmin mutants, the molecular etiology of desminopathy results from subtle deficiencies in their association with nebulin, a major actin-binding filament protein of striated muscle.

15. A nebulin-based nemaline myopathy model is characterized in transgenic mice following deletion of exon 55 in nebulin.

16. Multiple isoforms of nebulin expressed in skeletal muscle and brain may have a role as actin filament stabilizer or length regulator in neurons of the human brain

17. Ultrasonographic findings suggestive of a myopathy and a carrier state for the NEB exon 55 deletion in one of the parents should trigger a thorough investigation for nemaline.

18. distal nemaline myopathy caused by four different compound heterozygous nebulin mutations

19. The mechanics as well as the X-ray diffraction patterns of human membrane-permeabilized single muscle fibers expressing nebulin mutations are reported.

20. Data revealed markedly reduced nebulin protein levels in muscle from nemaline myopathy patients, whereas levels of other thin filament-based proteins were not significantly altered.

Rabbit Nebulin (NEB) interaction partners

1. 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.

Mouse (Murine) Nebulin (NEB) interaction partners

1. Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity

2. Nebulin SH3 domain protects against eccentric contraction-induced injury and possibly plays a role in fine-tuning the excitation-contraction coupling mechanism.

3. Pnn downregulation in skeletal muscle causes a muscular dystrophic phenotype associated with NEB deficiency and the CCD domain is incapable of replacing full length Pnn in terms of functional capacity.

4. fast skeletal muscle troponin activation increases force at submaximal activation in both wildtype and NEB knockout fiber bundles.

5. findings show the nebulin-N-WASP complex caused actin nucleation for unbranched actin filament formation from the Z bands without the Arp2/3 complex

6. Results support the view that nebulin plays an important role in skeletal muscle Z-disc width regulation.

7. The functional roles of nebulin extend beyond thin filament length regulation and include roles in maintaining physiological Z-disk widths and myofibrillar connectivity.

8. LIM domain and nebulin-repeats to the interaction of Lasp-2 with actin filaments and focal adhesions

9. 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.

10. a means for nebulin-like motifs to participate in the allosteric regulation of striated muscle contraction

11. nebulin isoform diversity may contribute to thin filament length differences in cardiac and skeletal muscle

12. A critical role for nebulin in the maintenance of sarcomeric structure and muscle contraction in skeletal muscle.

13. the expression patterns of one of the alternatively spliced regions of nebulin: exons 127 and 128 in the mouse gene during muscle maturation

14. Nebulin functions in vivo as a molecular ruler by specifying pointed- and barbed-end thin filament capping

15. Speed of Ca(2+) uptake was >3-fold decreased in sarcoplasmic reticulum vesicles isolated from nebulin-free muscle as well as in nebulin-free intact myofibers.

16. NEB is essential for active stress production, maintenance of functional integrity during cyclic activation, and length-tension properties consistent with a role in specifying normal thin filament length

17. Nebulin increases thin filament activation in skeletal muscle and increases muscle force and efficiency of contraction.

Cow (Bovine) Nebulin (NEB) interaction partners

1. Results show that expression of nebulin decreased during the late fattening stage of of hanwoo steers.