FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912572438> ?p ?o ?g. }

• W2912572438 endingPage "1725" @default.
• W2912572438 startingPage "1709" @default.
• W2912572438 abstract "Nebulin is a large skeletal muscle protein wound around the thin filaments, with its C-terminus embedded within the Z-disk and its N-terminus extending out toward the thin filament pointed end. While nebulin's C-terminus has been implicated in both sarcomeric structure and function as well as the development of nemaline myopathy, the contributions of this region remain largely unknown. Additionally, the C-terminus is reported to contribute to muscle hypertrophy via the IGF-1 growth pathway. To study the functions of nebulin's C-terminus, we generated a mouse model deleting the final two unique C-terminal domains, the serine-rich region (SRR) and the SH3 domain (NebΔ163–165). Homozygous NebΔ163–165 mice that survive past the neonatal stage exhibit a mild weight deficit. Characterization of these mice revealed that the truncation caused a moderate myopathy phenotype reminiscent of nemaline myopathy despite the majority of nebulin being localized properly in the thin filaments. This phenotype included muscle weight loss, changes in sarcomere structure, as well as a decrease in force production. Glutathione S-transferase (GST) pull-down experiments found novel binding partners with the SRR, several of which are associated with myopathies. While the C-terminus does not appear to be a limiting step in muscle growth, the IGF-1 growth pathway remained functional despite the deleted domains being proposed to be essential for IGF-1 mediated hypertrophy. The NebΔ163–165 mouse model emphasizes that nebulin's C-terminus is necessary for proper sarcomeric development and shows that its loss is sufficient to induce myopathy." @default.
• W2912572438 created "2019-02-21" @default.
• W2912572438 creator A5006292602 @default.
• W2912572438 creator A5034622586 @default.
• W2912572438 creator A5046297189 @default.
• W2912572438 date "2019-01-24" @default.
• W2912572438 modified "2023-10-16" @default.
• W2912572438 title "Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy" @default.
• W2912572438 cites W1517257838 @default.
• W2912572438 cites W1613064972 @default.
• W2912572438 cites W1924983339 @default.
• W2912572438 cites W1973202003 @default.
• W2912572438 cites W1976751662 @default.
• W2912572438 cites W1979255869 @default.
• W2912572438 cites W1991480774 @default.
• W2912572438 cites W1993004031 @default.
• W2912572438 cites W1993943263 @default.
• W2912572438 cites W1996532635 @default.
• W2912572438 cites W2004452415 @default.
• W2912572438 cites W2006471605 @default.
• W2912572438 cites W2014537378 @default.
• W2912572438 cites W2061075528 @default.
• W2912572438 cites W2062056760 @default.
• W2912572438 cites W2064111855 @default.
• W2912572438 cites W2068277549 @default.
• W2912572438 cites W2069609168 @default.
• W2912572438 cites W2072188273 @default.
• W2912572438 cites W2076816803 @default.
• W2912572438 cites W2077187719 @default.
• W2912572438 cites W2078105255 @default.
• W2912572438 cites W2082282275 @default.
• W2912572438 cites W2087200888 @default.
• W2912572438 cites W2088752381 @default.
• W2912572438 cites W2088879124 @default.
• W2912572438 cites W2089138655 @default.
• W2912572438 cites W2094603514 @default.
• W2912572438 cites W2105851009 @default.
• W2912572438 cites W2110828143 @default.
• W2912572438 cites W2116668508 @default.
• W2912572438 cites W2117320670 @default.
• W2912572438 cites W2117542342 @default.
• W2912572438 cites W2127460024 @default.
• W2912572438 cites W2130077023 @default.
• W2912572438 cites W2131671324 @default.
• W2912572438 cites W2133362538 @default.
• W2912572438 cites W2134137337 @default.
• W2912572438 cites W2136444406 @default.
• W2912572438 cites W2138475139 @default.
• W2912572438 cites W2141081077 @default.
• W2912572438 cites W2144324364 @default.
• W2912572438 cites W2155523943 @default.
• W2912572438 cites W2166443085 @default.
• W2912572438 cites W2167361371 @default.
• W2912572438 cites W2175991112 @default.
• W2912572438 cites W2743500977 @default.
• W2912572438 cites W2807984492 @default.
• W2912572438 doi "https://doi.org/10.1093/hmg/ddz016" @default.
• W2912572438 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6494792" @default.
• W2912572438 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30689900" @default.
• W2912572438 hasPublicationYear "2019" @default.
• W2912572438 type Work @default.
• W2912572438 sameAs 2912572438 @default.
• W2912572438 citedByCount "14" @default.
• W2912572438 countsByYear W29125724382019 @default.
• W2912572438 countsByYear W29125724382020 @default.
• W2912572438 countsByYear W29125724382021 @default.
• W2912572438 countsByYear W29125724382022 @default.
• W2912572438 countsByYear W29125724382023 @default.
• W2912572438 crossrefType "journal-article" @default.
• W2912572438 hasAuthorship W2912572438A5006292602 @default.
• W2912572438 hasAuthorship W2912572438A5034622586 @default.
• W2912572438 hasAuthorship W2912572438A5046297189 @default.
• W2912572438 hasBestOaLocation W29125724382 @default.
• W2912572438 hasConcept C105702510 @default.
• W2912572438 hasConcept C125705527 @default.
• W2912572438 hasConcept C134018914 @default.
• W2912572438 hasConcept C167414201 @default.
• W2912572438 hasConcept C207200792 @default.
• W2912572438 hasConcept C2777300911 @default.
• W2912572438 hasConcept C2779621917 @default.
• W2912572438 hasConcept C2779959927 @default.
• W2912572438 hasConcept C515207424 @default.
• W2912572438 hasConcept C54355233 @default.
• W2912572438 hasConcept C57711820 @default.
• W2912572438 hasConcept C68731436 @default.
• W2912572438 hasConcept C83323008 @default.
• W2912572438 hasConcept C86803240 @default.
• W2912572438 hasConcept C90671521 @default.
• W2912572438 hasConcept C95444343 @default.
• W2912572438 hasConceptScore W2912572438C105702510 @default.
• W2912572438 hasConceptScore W2912572438C125705527 @default.
• W2912572438 hasConceptScore W2912572438C134018914 @default.
• W2912572438 hasConceptScore W2912572438C167414201 @default.
• W2912572438 hasConceptScore W2912572438C207200792 @default.
• W2912572438 hasConceptScore W2912572438C2777300911 @default.
• W2912572438 hasConceptScore W2912572438C2779621917 @default.
• W2912572438 hasConceptScore W2912572438C2779959927 @default.
• W2912572438 hasConceptScore W2912572438C515207424 @default.

• next