FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385230129> ?p ?o ?g. }

• W4385230129 endingPage "4173" @default.
• W4385230129 startingPage "4158" @default.
• W4385230129 abstract "Centronuclear and myotubular myopathies (CNM) are rare and severe genetic diseases associated with muscle weakness and atrophy as well as intracellular disorganization of myofibres. The main mutated proteins control lipid and membrane dynamics and are the lipid phosphatase myotubularin (MTM1), and the membrane remodelling proteins amphiphysin 2 (BIN1) and dynamin 2 (DNM2). There is no available therapy. Here, to validate a novel therapeutic strategy for BIN1- and DNM2-CNM, we evaluated adeno-associated virus-mediated MTM1 (AAV-MTM1 ) overexpression in relevant mouse models. Early systemic MTM1 overexpression prevented the development of the CNM pathology in Bin1mck-/- mice, while late intramuscular MTM1 expression partially reverted the established phenotypes after only 4 weeks of treatment. However, AAV-MTM1 injection did not change the DNM2-CNM mouse phenotypes. We investigated the mechanism of the rescue of the myopathy in BIN1-CNM and found that the lipid phosphatase activity of MTM1 was essential for the rescue of muscle atrophy and myofibre hypotrophy but dispensable for the rescue of myofibre disorganization including organelle mis-position and T-tubule defects. Furthermore, the improvement of T-tubule organization correlated with normalization of key regulators of T-tubule morphogenesis, dysferlin and caveolin. Overall, these data support the inclusion of BIN1-CNM patients in an AAV-MTM1 clinical trial." @default.
• W4385230129 created "2023-07-26" @default.
• W4385230129 creator A5000217214 @default.
• W4385230129 creator A5004803054 @default.
• W4385230129 creator A5080584624 @default.
• W4385230129 creator A5085289587 @default.
• W4385230129 date "2023-07-25" @default.
• W4385230129 modified "2023-10-13" @default.
• W4385230129 title "MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy" @default.
• W4385230129 cites W1660040913 @default.
• W4385230129 cites W1948003349 @default.
• W4385230129 cites W1984366092 @default.
• W4385230129 cites W2013682104 @default.
• W4385230129 cites W2029928521 @default.
• W4385230129 cites W2045017287 @default.
• W4385230129 cites W2047350931 @default.
• W4385230129 cites W2053127486 @default.
• W4385230129 cites W2053365501 @default.
• W4385230129 cites W2079248120 @default.
• W4385230129 cites W2089858031 @default.
• W4385230129 cites W2098241317 @default.
• W4385230129 cites W2099699826 @default.
• W4385230129 cites W2105498140 @default.
• W4385230129 cites W2106482763 @default.
• W4385230129 cites W2109770717 @default.
• W4385230129 cites W2118159264 @default.
• W4385230129 cites W2127803098 @default.
• W4385230129 cites W2149967863 @default.
• W4385230129 cites W2167279371 @default.
• W4385230129 cites W2171470870 @default.
• W4385230129 cites W2460101436 @default.
• W4385230129 cites W2520372173 @default.
• W4385230129 cites W2525315911 @default.
• W4385230129 cites W2765253110 @default.
• W4385230129 cites W2767311663 @default.
• W4385230129 cites W2924673274 @default.
• W4385230129 cites W2952481429 @default.
• W4385230129 cites W2964122735 @default.
• W4385230129 cites W2964133504 @default.
• W4385230129 cites W3070784915 @default.
• W4385230129 cites W3080758726 @default.
• W4385230129 cites W3097033736 @default.
• W4385230129 cites W3111521801 @default.
• W4385230129 cites W3121032204 @default.
• W4385230129 cites W3155281178 @default.
• W4385230129 cites W3188484539 @default.
• W4385230129 cites W3190065873 @default.
• W4385230129 cites W3198514921 @default.
• W4385230129 cites W3205898450 @default.
• W4385230129 cites W4226340680 @default.
• W4385230129 cites W4281721714 @default.
• W4385230129 cites W4292682500 @default.
• W4385230129 doi "https://doi.org/10.1093/brain/awad251" @default.
• W4385230129 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37490306" @default.
• W4385230129 hasPublicationYear "2023" @default.
• W4385230129 type Work @default.
• W4385230129 citedByCount "0" @default.
• W4385230129 crossrefType "journal-article" @default.
• W4385230129 hasAuthorship W4385230129A5000217214 @default.
• W4385230129 hasAuthorship W4385230129A5004803054 @default.
• W4385230129 hasAuthorship W4385230129A5080584624 @default.
• W4385230129 hasAuthorship W4385230129A5085289587 @default.
• W4385230129 hasBestOaLocation W43852301291 @default.
• W4385230129 hasConcept C134018914 @default.
• W4385230129 hasConcept C139966638 @default.
• W4385230129 hasConcept C142724271 @default.
• W4385230129 hasConcept C156407911 @default.
• W4385230129 hasConcept C158617107 @default.
• W4385230129 hasConcept C170493617 @default.
• W4385230129 hasConcept C2776263037 @default.
• W4385230129 hasConcept C2779959927 @default.
• W4385230129 hasConcept C28005876 @default.
• W4385230129 hasConcept C54355233 @default.
• W4385230129 hasConcept C71924100 @default.
• W4385230129 hasConcept C86803240 @default.
• W4385230129 hasConcept C95444343 @default.
• W4385230129 hasConceptScore W4385230129C134018914 @default.
• W4385230129 hasConceptScore W4385230129C139966638 @default.
• W4385230129 hasConceptScore W4385230129C142724271 @default.
• W4385230129 hasConceptScore W4385230129C156407911 @default.
• W4385230129 hasConceptScore W4385230129C158617107 @default.
• W4385230129 hasConceptScore W4385230129C170493617 @default.
• W4385230129 hasConceptScore W4385230129C2776263037 @default.
• W4385230129 hasConceptScore W4385230129C2779959927 @default.
• W4385230129 hasConceptScore W4385230129C28005876 @default.
• W4385230129 hasConceptScore W4385230129C54355233 @default.
• W4385230129 hasConceptScore W4385230129C71924100 @default.
• W4385230129 hasConceptScore W4385230129C86803240 @default.
• W4385230129 hasConceptScore W4385230129C95444343 @default.
• W4385230129 hasFunder F4320321589 @default.
• W4385230129 hasFunder F4320323001 @default.
• W4385230129 hasIssue "10" @default.
• W4385230129 hasLocation W43852301291 @default.
• W4385230129 hasLocation W43852301292 @default.
• W4385230129 hasOpenAccess W4385230129 @default.
• W4385230129 hasPrimaryLocation W43852301291 @default.
• W4385230129 hasRelatedWork W1608132397 @default.
• W4385230129 hasRelatedWork W1982258661 @default.

• next