Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 7 of 7 for “"nebulin"”.
-
Myogenic Effectors and Disease
… of contractile proteins in muscle, particularly Nebulin. Molecularly, Klhl41 acts as a chaperone for Nebulin, and N-terminal poly-ubiquitination of Klhl41 acts as a signal to regulate its activity. Finally, we identify a novel pathogenic mutation in the cell fusogen Myomixer. We show that …
-
A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy
… hetero zygous mutation in the NEB gene encoding nebulin, which was composed of two different novel missense mutations: c.2603T>C (p.L868P)in exon 27 and c.21340C>T (p.R7114W) in exon 143. As NEB gene mutations are known to cause autosomal recessive myopathies and the patients have generalized …
-
A hair bundle proteomics approach to discovering actin regulatory proteins in inner ear stereocilia
… was detectable along the shaft of stereocilia. Nebulin, a putative F-actin regulator, was located toward the base of stereocilia. Finally, twinfilin 2, a putative modulator of actin polymerization, was found at the tips of stereocilia. In order to determine the function of twinfilin 2, I …
-
Investigating the role of Klhl31 in striated muscle
… being involved in myofibrillogenesis, such as Nebulin, Actin, CapZ and tropomyosin. We also analysed a possible role of Klhl31 in proteasomal degradation, as Klhl31 was shown to negatively regulate canonical Wnt-signalling. We gathered evidence that Klhl31 might interact with components of …
-
Identification of Phosphorylase Kinase Alpha Subunit Binding Partners in Skeletal Muscle
… shown to interact with the thin filament protein nebulin. To our knowledge, this is the first report to identify TRIP10 as a potential sarcomeric protein, and these findings further suggest a role for PhK in muscle assembly and architecture.</p>
-
Discovery of New Regulatory Proteins and Mechanisms in Muscle Biology and Disease
… We found that Klhl40 binds to two proteins: (1) nebulin (Neb), a sarcomere thin filament protein that is frequently mutated in NM; and (2) leiomodin 3 (Lmod3), a novel muscle-specific protein with putative thin filament actin polymerization activity. Klhl40 belongs to the BTB-BACK-Kelch (BBK) …
-
Postmortem changes in meat quality and myofibrillar protein degradation in turkey breast muscle
… up to 20% of myosin degraded in RG/DC samples. Nebulin degradation was also more extensive in RG samples than for controls. Heating postrigor breast increased myosin degradation, however, differences in the banding pattern of myosin fragments compared to samples from RG carcasses were observed. …