anti-Nebulin (NEB) Antikörper

Zebrafish Nebulin (NEB) Interaktionspartner

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

Human Nebulin (NEB) Interaktionspartner

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

2. We examined a Chinese strabismus (zeige VANGL2 Antikörper) 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 Antikörper)) gene and nebulin (NEB) gene. c.A914G mutation was found in nebulin (NEB) gene.

3. 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 Antikörper).

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

5. recurrent NEB TRI (zeige VANGL2 Antikörper) copy number variation was found in 13% of the families with nemaline myopathy and in 10% of the controls.

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

7. 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.

8. 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.

9. 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

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

Rabbit Nebulin (NEB) Interaktionspartner

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) Interaktionspartner

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

2. Nebulin SH3 domain (zeige ITSN1 Antikörper) protects against eccentric contraction-induced injury and possibly plays a role in fine-tuning the excitation-contraction coupling mechanism.

3. Pnn (zeige PNN Antikörper) downregulation in skeletal muscle causes a muscular dystrophic phenotype associated with NEB deficiency and the CCD (zeige RUNX2 Antikörper) domain is incapable of replacing full length Pnn (zeige PNN Antikörper) 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 (zeige AICDA Antikörper)/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 (zeige NSDHL Antikörper) muscle contraction

Cow (Bovine) Nebulin (NEB) Interaktionspartner

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