FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2160092802> ?p ?o ?g. }

• W2160092802 endingPage "4836" @default.
• W2160092802 startingPage "4820" @default.
• W2160092802 abstract "Abstract Autosomal dominant centronuclear myopathy (AD-CNM) is due to mutations in the gene encoding dynamin 2 (DNM2) involved in endocytosis and intracellular membrane trafficking. To understand the pathomechanisms resulting from a DNM2 mutation, we generated a knock-in mouse model expressing the most frequent AD-CNM mutation (KI-Dnm2R465W). Heterozygous (HTZ) mice developed a myopathy showing a specific spatial and temporal muscle involvement. In the primarily and prominently affected tibialis anterior muscle, impairment of the contractile properties was evidenced at weaning and was progressively associated with atrophy and histopathological abnormalities mainly affecting mitochondria and reticular network. Expression of genes involved in ubiquitin–proteosome and autophagy pathways was up-regulated during DNM2-induced atrophy. In isolated muscle fibers from wild-type and HTZ mice, Dnm2 localized in regions of intense membrane trafficking (I-band and perinuclear region), emphasizing the pathophysiological hypothesis in which DNM2-dependent trafficking would be altered. In addition, HTZ fibers showed an increased calcium concentration as well as an intracellular Dnm2 and dysferlin accumulation. A similar dysferlin retention, never reported so far in congenital myopathies, was also demonstrated in biopsies from DNM2-CNM patients and can be considered as a new marker to orientate direct genetic testing. Homozygous (HMZ) mice died during the first hours of life. Impairment of clathrin-mediated endocytosis, demonstrated in HMZ embryonic fibroblasts, could be the cause of lethality. Overall, this first mouse model of DNM2-related myopathy shows the crucial role of DNM2 in muscle homeostasis and will be a precious tool to study DNM2 functions in muscle, pathomechanisms of DNM2-CNM and developing therapeutic strategies." @default.
• W2160092802 created "2016-06-24" @default.
• W2160092802 creator A5013071253 @default.
• W2160092802 creator A5023146149 @default.
• W2160092802 creator A5023265145 @default.
• W2160092802 creator A5026861901 @default.
• W2160092802 creator A5027139411 @default.
• W2160092802 creator A5052837520 @default.
• W2160092802 creator A5057637128 @default.
• W2160092802 creator A5058276918 @default.
• W2160092802 creator A5059796141 @default.
• W2160092802 creator A5075475458 @default.
• W2160092802 creator A5082003502 @default.
• W2160092802 creator A5086509913 @default.
• W2160092802 date "2010-09-21" @default.
• W2160092802 modified "2023-10-14" @default.
• W2160092802 title "A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice" @default.
• W2160092802 cites W1660040913 @default.
• W2160092802 cites W1948003349 @default.
• W2160092802 cites W1965480857 @default.
• W2160092802 cites W1967544564 @default.
• W2160092802 cites W1974768963 @default.
• W2160092802 cites W1983322120 @default.
• W2160092802 cites W1986972844 @default.
• W2160092802 cites W1988132517 @default.
• W2160092802 cites W1994513923 @default.
• W2160092802 cites W2007669066 @default.
• W2160092802 cites W2010497591 @default.
• W2160092802 cites W2014899456 @default.
• W2160092802 cites W2022876043 @default.
• W2160092802 cites W2030150809 @default.
• W2160092802 cites W2033797333 @default.
• W2160092802 cites W2034848911 @default.
• W2160092802 cites W2039313004 @default.
• W2160092802 cites W2040822600 @default.
• W2160092802 cites W2045017287 @default.
• W2160092802 cites W2055555352 @default.
• W2160092802 cites W2057383532 @default.
• W2160092802 cites W2079900215 @default.
• W2160092802 cites W2084221056 @default.
• W2160092802 cites W2089858031 @default.
• W2160092802 cites W2092215576 @default.
• W2160092802 cites W2115977533 @default.
• W2160092802 cites W2122524549 @default.
• W2160092802 cites W2124811698 @default.
• W2160092802 cites W2127803098 @default.
• W2160092802 cites W2128677681 @default.
• W2160092802 cites W2139182794 @default.
• W2160092802 cites W2140587108 @default.
• W2160092802 cites W2141260882 @default.
• W2160092802 cites W2141695116 @default.
• W2160092802 cites W2148199891 @default.
• W2160092802 cites W2149967863 @default.
• W2160092802 cites W2153689647 @default.
• W2160092802 cites W2154584639 @default.
• W2160092802 cites W2160748450 @default.
• W2160092802 cites W2160913295 @default.
• W2160092802 cites W2167033587 @default.
• W2160092802 cites W2169050190 @default.
• W2160092802 cites W2169448756 @default.
• W2160092802 cites W2478819629 @default.
• W2160092802 doi "https://doi.org/10.1093/hmg/ddq413" @default.
• W2160092802 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20858595" @default.
• W2160092802 hasPublicationYear "2010" @default.
• W2160092802 type Work @default.
• W2160092802 sameAs 2160092802 @default.
• W2160092802 citedByCount "107" @default.
• W2160092802 countsByYear W21600928022012 @default.
• W2160092802 countsByYear W21600928022013 @default.
• W2160092802 countsByYear W21600928022014 @default.
• W2160092802 countsByYear W21600928022015 @default.
• W2160092802 countsByYear W21600928022016 @default.
• W2160092802 countsByYear W21600928022017 @default.
• W2160092802 countsByYear W21600928022018 @default.
• W2160092802 countsByYear W21600928022019 @default.
• W2160092802 countsByYear W21600928022020 @default.
• W2160092802 countsByYear W21600928022021 @default.
• W2160092802 countsByYear W21600928022022 @default.
• W2160092802 countsByYear W21600928022023 @default.
• W2160092802 crossrefType "journal-article" @default.
• W2160092802 hasAuthorship W2160092802A5013071253 @default.
• W2160092802 hasAuthorship W2160092802A5023146149 @default.
• W2160092802 hasAuthorship W2160092802A5023265145 @default.
• W2160092802 hasAuthorship W2160092802A5026861901 @default.
• W2160092802 hasAuthorship W2160092802A5027139411 @default.
• W2160092802 hasAuthorship W2160092802A5052837520 @default.
• W2160092802 hasAuthorship W2160092802A5057637128 @default.
• W2160092802 hasAuthorship W2160092802A5058276918 @default.
• W2160092802 hasAuthorship W2160092802A5059796141 @default.
• W2160092802 hasAuthorship W2160092802A5075475458 @default.
• W2160092802 hasAuthorship W2160092802A5082003502 @default.
• W2160092802 hasAuthorship W2160092802A5086509913 @default.
• W2160092802 hasBestOaLocation W21600928021 @default.
• W2160092802 hasConcept C113217602 @default.
• W2160092802 hasConcept C134018914 @default.
• W2160092802 hasConcept C142724271 @default.
• W2160092802 hasConcept C1491633281 @default.
• W2160092802 hasConcept C156407911 @default.

• next