{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T22:34:09Z","timestamp":1787697249164,"version":"build-2784847793"},"reference-count":63,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T00:00:00Z","timestamp":1733184000000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-10-IDEX-0002"],"award-info":[{"award-number":["ANR-10-IDEX-0002"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-20-SFRI-0012"],"award-info":[{"award-number":["ANR-20-SFRI-0012"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-17-EURE-0023"],"award-info":[{"award-number":["ANR-17-EURE-0023"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004923","name":"AFM-T\u00e9l\u00e9thon","doi-asserted-by":"publisher","award":["22734"],"award-info":[{"award-number":["22734"]}],"id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004923","name":"AFM-T\u00e9l\u00e9thon","doi-asserted-by":"publisher","award":["23933"],"award-info":[{"award-number":["23933"]}],"id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["EQU201903007992"],"award-info":[{"award-number":["EQU201903007992"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["576154"],"award-info":[{"award-number":["576154"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cell. Mol. Life Sci."],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X-Linked myotubular myopathy (XLMTM) is characterized by severe skeletal muscle weakness and reduced life expectancy. The pathomechanism and the impact of non-muscular defects affecting survival, such as liver dysfunction, are poorly understood. Here, we investigated organ-specific effects of XLMTM using the <jats:italic>Mtm1<\/jats:italic><jats:sup>\u2212\/y<\/jats:sup> mouse model. We performed RNA-sequencing to identify a common mechanism in different skeletal muscles, and to explore potential phenotypes and compensatory mechanisms in the heart and the liver. The cardiac and hepatic function and structural integrity were assessed both in vivo and in vitro. Our findings revealed no defects in liver function or morphology. A disease signature common to several skeletal muscles highlighted dysregulation of muscle development, inflammation, cell adhesion and oxidative phosphorylation as key pathomechanisms. The heart displayed only mild functional alterations without obvious structural defects. Transcriptomic analyses revealed an opposite dysregulation of mitochondrial function, cell adhesion and beta integrin trafficking pathways in cardiac muscle compared to skeletal muscles. Despite this dysregulation, biochemical and cellular experiments demonstrated that these pathways were strongly affected in skeletal muscle and normal in cardiac muscle. Moreover, biomarkers reflecting the molecular activity of MTM1, such as PtdIns3<jats:italic>P<\/jats:italic> and dynamin 2 levels, were increased in the skeletal muscles but not in cardiac muscle. Overall, these data suggest a compensatory mechanism preserving cardiac function, pointing to potential therapeutic targets to cure the severe skeletal muscle defects in XLMTM.<\/jats:p>","DOI":"10.1007\/s00018-024-05512-9","type":"journal-article","created":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T09:18:18Z","timestamp":1733217498000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Potential compensatory mechanisms preserving cardiac function in myotubular myopathy"],"prefix":"10.1007","volume":"81","author":[{"given":"Alix","family":"Simon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nad\u00e8ge","family":"Diedhiou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Reiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Goret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erwan","family":"Grandgirard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8256-5862","authenticated-orcid":false,"given":"Jocelyn","family":"Laporte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,3]]},"reference":[{"key":"5512_CR1","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1038\/ng0696-175","volume":"13","author":"J Laporte","year":"1996","unstructured":"Laporte J, Hu LJ, Kretz C et al (1996) A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 13:175\u2013182. https:\/\/doi.org\/10.1038\/ng0696-175","journal-title":"Nat Genet"},{"key":"5512_CR2","doi-asserted-by":"publisher","first-page":"11377","DOI":"10.3390\/ijms222111377","volume":"22","author":"R G\u00f3mez-Oca","year":"2021","unstructured":"G\u00f3mez-Oca R, Cowling BS, Laporte J (2021) Common pathogenic mechanisms in Centronuclear and myotubular myopathies and latest treatment advances. Int J Mol Sci 22:11377. https:\/\/doi.org\/10.3390\/ijms222111377","journal-title":"Int J Mol Sci"},{"key":"5512_CR3","doi-asserted-by":"publisher","first-page":"eaav1866","DOI":"10.1126\/scitranslmed.aav1866","volume":"11","author":"VM Lionello","year":"2019","unstructured":"Lionello VM, Nicot A-S, Sartori M et al (2019) Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice. Sci Transl Med 11:eaav1866. https:\/\/doi.org\/10.1126\/scitranslmed.aav1866","journal-title":"Sci Transl Med"},{"key":"5512_CR4","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1038\/nature16516","volume":"529","author":"K Ketel","year":"2016","unstructured":"Ketel K, Krauss M, Nicot A-S et al (2016) A phosphoinositide conversion mechanism for exit from endosomes. Nature 529:408\u2013412. https:\/\/doi.org\/10.1038\/nature16516","journal-title":"Nature"},{"key":"5512_CR5","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1136\/archdischild-2019-317910","volume":"105","author":"RJ Graham","year":"2020","unstructured":"Graham RJ, Muntoni F, Hughes I et al (2020) Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Arch Dis Child 105:332\u2013338. https:\/\/doi.org\/10.1136\/archdischild-2019-317910","journal-title":"Arch Dis Child"},{"key":"5512_CR6","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/1750-1172-3-26","volume":"3","author":"H Jungbluth","year":"2008","unstructured":"Jungbluth H, Wallgren-Pettersson C, Laporte J (2008) Centronuclear (myotubular) myopathy. Orphanet J Rare Dis 3:26. https:\/\/doi.org\/10.1186\/1750-1172-3-26","journal-title":"Orphanet J Rare Dis"},{"key":"5512_CR7","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1093\/jnen\/nlv020","volume":"75","author":"MW Lawlor","year":"2016","unstructured":"Lawlor MW, Beggs AH, Buj-Bello A et al (2016) Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: review with cross-species comparisons. J Neuropathol Exp Neurol 75:102\u2013110. https:\/\/doi.org\/10.1093\/jnen\/nlv020","journal-title":"J Neuropathol Exp Neurol"},{"key":"5512_CR8","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/j.nmd.2010.01.014","volume":"20","author":"NB Romero","year":"2010","unstructured":"Romero NB (2010) Centronuclear myopathies: a widening concept. Neuromuscul Disord NMD 20:223\u2013228. https:\/\/doi.org\/10.1016\/j.nmd.2010.01.014","journal-title":"Neuromuscul Disord NMD"},{"key":"5512_CR9","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1007\/s00401-017-1748-0","volume":"134","author":"V Biancalana","year":"2017","unstructured":"Biancalana V, Scheidecker S, Miguet M et al (2017) Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. Acta Neuropathol (Berl) 134:889\u2013904. https:\/\/doi.org\/10.1007\/s00401-017-1748-0","journal-title":"Acta Neuropathol (Berl)"},{"key":"5512_CR10","doi-asserted-by":"publisher","first-page":"e1535","DOI":"10.1212\/WNL.0000000000008316","volume":"93","author":"BT Cocanougher","year":"2019","unstructured":"Cocanougher BT, Flynn L, Yun P et al (2019) Adult MTM1-related myopathy carriers: classification based on deep phenotyping. Neurology 93:e1535\u2013e1542. https:\/\/doi.org\/10.1212\/WNL.0000000000008316","journal-title":"Neurology"},{"key":"5512_CR11","doi-asserted-by":"publisher","first-page":"e2223","DOI":"10.1212\/WNL.0000000000201084","volume":"99","author":"DK Franken","year":"2022","unstructured":"Franken DK, Bouman K, Reumers SFI et al (2022) Neuromuscular features in XL-MTM carriers: a cross-sectional study in an unselected cohort. Neurology 99:e2223\u2013e2233. https:\/\/doi.org\/10.1212\/WNL.0000000000201084","journal-title":"Neurology"},{"key":"5512_CR12","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1016\/s0022-3476(99)70417-8","volume":"134","author":"GE Herman","year":"1999","unstructured":"Herman GE, Finegold M, Zhao W et al (1999) Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr 134:206\u2013214. https:\/\/doi.org\/10.1016\/s0022-3476(99)70417-8","journal-title":"J Pediatr"},{"key":"5512_CR13","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1016\/j.pediatrneurol.2012.02.026","volume":"46","author":"H Koga","year":"2012","unstructured":"Koga H, Miyako K, Suga N et al (2012) Predisposition to subdural hemorrhage in X-linked myotubular myopathy. Pediatr Neurol 46:332\u2013334. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2012.02.026","journal-title":"Pediatr Neurol"},{"key":"5512_CR14","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1016\/j.nmd.2013.06.008","volume":"23","author":"T Motoki","year":"2013","unstructured":"Motoki T, Fukuda M, Nakano T et al (2013) Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: a case report. Neuromuscul Disord NMD 23:917\u2013921. https:\/\/doi.org\/10.1016\/j.nmd.2013.06.008","journal-title":"Neuromuscul Disord NMD"},{"key":"5512_CR15","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/j.braindev.2021.11.004","volume":"44","author":"T Yabe","year":"2022","unstructured":"Yabe T, Itonaga T, Kuga S et al (2022) An autopsy case of recurrent pneumothorax and peliosis-like intrapulmonary hematoma with X-linked myotubular myopathy. Brain Dev 44:234\u2013238. https:\/\/doi.org\/10.1016\/j.braindev.2021.11.004","journal-title":"Brain Dev"},{"key":"5512_CR16","doi-asserted-by":"publisher","first-page":"73","DOI":"10.3233\/JND-210712","volume":"9","author":"C Molera","year":"2022","unstructured":"Molera C, Sarishvili T, Nascimento A et al (2022) Intrahepatic Cholestasis is a clinically significant feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): a Case Series and Biopsy Report. J Neuromuscul Dis 9:73\u201382. https:\/\/doi.org\/10.3233\/JND-210712","journal-title":"J Neuromuscul Dis"},{"key":"5512_CR17","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1186\/s13023-021-02055-1","volume":"16","author":"A D\u2019Amico","year":"2021","unstructured":"D\u2019Amico A, Longo A, Fattori F et al (2021) Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies. Orphanet J Rare Dis 16:425. https:\/\/doi.org\/10.1186\/s13023-021-02055-1","journal-title":"Orphanet J Rare Dis"},{"key":"5512_CR18","doi-asserted-by":"publisher","first-page":"1753","DOI":"10.1016\/j.ymthe.2020.07.009","volume":"28","author":"L Morales","year":"2020","unstructured":"Morales L, Gambhir Y, Bennett J, Stedman HH (2020) Broader implications of Progressive Liver Dysfunction and Lethal Sepsis in two boys following systemic high-dose AAV. Mol Ther J Am Soc Gene Ther 28:1753\u20131755. https:\/\/doi.org\/10.1016\/j.ymthe.2020.07.009","journal-title":"Mol Ther J Am Soc Gene Ther"},{"key":"5512_CR19","doi-asserted-by":"publisher","DOI":"10.1172\/JCI166275","author":"S Karolczak","year":"2023","unstructured":"Karolczak S, Deshwar AR, Aristegui E et al (2023) Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy. J Clin Invest. https:\/\/doi.org\/10.1172\/JCI166275","journal-title":"J Clin Invest"},{"key":"5512_CR20","doi-asserted-by":"publisher","first-page":"e1852","DOI":"10.1212\/WNL.0000000000007319","volume":"92","author":"M Annoussamy","year":"2019","unstructured":"Annoussamy M, Lilien C, Gidaro T et al (2019) X-linked myotubular myopathy. Neurology 92:e1852\u2013e1867. https:\/\/doi.org\/10.1212\/WNL.0000000000007319","journal-title":"Neurology"},{"key":"5512_CR21","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1016\/j.ymthe.2017.02.004","volume":"25","author":"DL Mack","year":"2017","unstructured":"Mack DL, Poulard K, Goddard MA et al (2017) Systemic AAV8-Mediated gene therapy drives whole-body correction of Myotubular Myopathy in Dogs. Mol Ther J Am Soc Gene Ther 25:839\u2013854. https:\/\/doi.org\/10.1016\/j.ymthe.2017.02.004","journal-title":"Mol Ther J Am Soc Gene Ther"},{"key":"5512_CR22","doi-asserted-by":"publisher","first-page":"15060","DOI":"10.1073\/pnas.212498399","volume":"99","author":"A Buj-Bello","year":"2002","unstructured":"Buj-Bello A, Laugel V, Messaddeq N et al (2002) The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A 99:15060\u201315065. https:\/\/doi.org\/10.1073\/pnas.212498399","journal-title":"Proc Natl Acad Sci U S A"},{"key":"5512_CR23","doi-asserted-by":"publisher","first-page":"2514","DOI":"10.1016\/j.ymthe.2021.04.033","volume":"29","author":"S Djeddi","year":"2021","unstructured":"Djeddi S, Reiss D, Menuet A et al (2021) Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies. Mol Ther J Am Soc Gene Ther 29:2514\u20132534. https:\/\/doi.org\/10.1016\/j.ymthe.2021.04.033","journal-title":"Mol Ther J Am Soc Gene Ther"},{"key":"5512_CR24","doi-asserted-by":"publisher","first-page":"dmm049342","DOI":"10.1242\/dmm.049342","volume":"15","author":"E Sarikaya","year":"2022","unstructured":"Sarikaya E, Sabha N, Volpatti J et al (2022) Natural history of a mouse model of X-linked myotubular myopathy. Dis Model Mech 15:dmm049342. https:\/\/doi.org\/10.1242\/dmm.049342","journal-title":"Dis Model Mech"},{"key":"5512_CR25","doi-asserted-by":"publisher","first-page":"4849","DOI":"10.1038\/s41467-018-07057-5","volume":"9","author":"N Maani","year":"2018","unstructured":"Maani N, Sabha N, Rezai K et al (2018) Tamoxifen therapy in a murine model of myotubular myopathy. Nat Commun 9:4849. https:\/\/doi.org\/10.1038\/s41467-018-07057-5","journal-title":"Nat Commun"},{"key":"5512_CR26","doi-asserted-by":"publisher","first-page":"10","DOI":"10.14806\/ej.17.1.200","volume":"17","author":"M Martin","year":"2011","unstructured":"Martin M (2011) Cutadapt removes adapter sequences from high-throughput sequencing reads. EMBnet J 17:10\u201312. https:\/\/doi.org\/10.14806\/ej.17.1.200","journal-title":"EMBnet J"},{"key":"5512_CR27","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","volume":"29","author":"A Dobin","year":"2013","unstructured":"Dobin A, Davis CA, Schlesinger F et al (2013) STAR: ultrafast universal RNA-seq aligner. Bioinforma Oxf Engl 29:15\u201321. https:\/\/doi.org\/10.1093\/bioinformatics\/bts635","journal-title":"Bioinforma Oxf Engl"},{"key":"5512_CR28","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1093\/bioinformatics\/btu638","volume":"31","author":"S Anders","year":"2015","unstructured":"Anders S, Pyl PT, Huber W (2015) HTSeq\u2014a Python framework to work with high-throughput sequencing data. Bioinformatics 31:166\u2013169. https:\/\/doi.org\/10.1093\/bioinformatics\/btu638","journal-title":"Bioinformatics"},{"key":"5512_CR29","doi-asserted-by":"publisher","first-page":"e47","DOI":"10.1093\/nar\/gkv007","volume":"43","author":"ME Ritchie","year":"2015","unstructured":"Ritchie ME, Phipson B, Wu D et al (2015) Limma powers differential expression analyses for RNA-sequencing and microarray studies. Nucleic Acids Res 43:e47. https:\/\/doi.org\/10.1093\/nar\/gkv007","journal-title":"Nucleic Acids Res"},{"key":"5512_CR30","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","volume":"15","author":"MI Love","year":"2014","unstructured":"Love MI, Huber W, Anders S (2014) Moderated estimation of Fold change and dispersion for RNA-seq data with DESeq2. Genome Biol 15:550. https:\/\/doi.org\/10.1186\/s13059-014-0550-8","journal-title":"Genome Biol"},{"key":"5512_CR31","doi-asserted-by":"publisher","first-page":"2224","DOI":"10.1016\/j.ajpath.2011.01.054","volume":"178","author":"BS Cowling","year":"2011","unstructured":"Cowling BS, Toussaint A, Amoasii L et al (2011) Increased expression of wild-type or a Centronuclear Myopathy Mutant of Dynamin 2 in skeletal muscle of adult mice leads to Structural defects and muscle weakness. Am J Pathol 178:2224\u20132235. https:\/\/doi.org\/10.1016\/j.ajpath.2011.01.054","journal-title":"Am J Pathol"},{"key":"5512_CR32","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-24277-4","volume-title":"ggplot2","author":"H Wickham","year":"2016","unstructured":"Wickham H (2016) ggplot2. Springer International Publishing, Cham"},{"key":"5512_CR33","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1007\/s00357-014-9161-z","volume":"31","author":"F Murtagh","year":"2014","unstructured":"Murtagh F, Legendre P (2014) Ward\u2019s hierarchical agglomerative clustering method: which Algorithms Implement Ward\u2019s Criterion? J Classif 31:274\u2013295. https:\/\/doi.org\/10.1007\/s00357-014-9161-z","journal-title":"J Classif"},{"key":"5512_CR34","doi-asserted-by":"publisher","first-page":"e101717","DOI":"10.1371\/journal.pone.0101717","volume":"9","author":"L Micallef","year":"2014","unstructured":"Micallef L, Rodgers P (2014) eulerAPE: drawing Area-Proportional 3-Venn diagrams using ellipses. PLoS ONE 9:e101717. https:\/\/doi.org\/10.1371\/journal.pone.0101717","journal-title":"PLoS ONE"},{"key":"5512_CR35","doi-asserted-by":"publisher","first-page":"100141","DOI":"10.1016\/j.xinn.2021.100141","volume":"2","author":"T Wu","year":"2021","unstructured":"Wu T, Hu E, Xu S et al (2021) clusterProfiler 4.0: a universal enrichment tool for interpreting omics data. Innov 2:100141. https:\/\/doi.org\/10.1016\/j.xinn.2021.100141","journal-title":"Innov"},{"key":"5512_CR36","doi-asserted-by":"publisher","unstructured":"Gennady Korotkevich V, Sukhov N, Budin et al (2021) Fast gene set enrichment analysis. https:\/\/doi.org\/10.1101\/060012. bioRxiv 060012","DOI":"10.1101\/060012"},{"key":"5512_CR37","doi-asserted-by":"publisher","first-page":"15545","DOI":"10.1073\/pnas.0506580102","volume":"102","author":"A Subramanian","year":"2005","unstructured":"Subramanian A, Tamayo P, Mootha VK et al (2005) Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci 102:15545\u201315550. https:\/\/doi.org\/10.1073\/pnas.0506580102","journal-title":"Proc Natl Acad Sci"},{"key":"5512_CR38","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1016\/j.cels.2015.12.004","volume":"1","author":"A Liberzon","year":"2015","unstructured":"Liberzon A, Birger C, Thorvaldsd\u00f3ttir H et al (2015) The Molecular signatures database (MSigDB) hallmark gene set collection. Cell Syst 1:417\u2013425. https:\/\/doi.org\/10.1016\/j.cels.2015.12.004","journal-title":"Cell Syst"},{"key":"5512_CR39","doi-asserted-by":"publisher","first-page":"D687","DOI":"10.1093\/nar\/gkab1028","volume":"50","author":"M Gillespie","year":"2022","unstructured":"Gillespie M, Jassal B, Stephan R et al (2022) The reactome pathway knowledgebase 2022. Nucleic Acids Res 50:D687\u2013D692. https:\/\/doi.org\/10.1093\/nar\/gkab1028","journal-title":"Nucleic Acids Res"},{"key":"5512_CR40","doi-asserted-by":"publisher","first-page":"iyad031","DOI":"10.1093\/genetics\/iyad031","volume":"224","author":"SA Aleksander","year":"2023","unstructured":"The Gene Ontology Consortium, Aleksander SA, Balhoff J et al (2023) The Gene Ontology knowledgebase in 2023. Genetics 224:iyad031. https:\/\/doi.org\/10.1093\/genetics\/iyad031","journal-title":"Genetics"},{"key":"5512_CR41","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1152\/physiolgenomics.00007.2019","volume":"51","author":"BS Gordon","year":"2019","unstructured":"Gordon BS, Rossetti ML, Eroshkin AM (2019) Arrdc2 and Arrdc3 elicit divergent changes in gene expression in skeletal muscle following anabolic and catabolic stimuli. Physiol Genomics 51:208\u2013217. https:\/\/doi.org\/10.1152\/physiolgenomics.00007.2019","journal-title":"Physiol Genomics"},{"key":"5512_CR42","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00444.2023","author":"GR Laskin","year":"2024","unstructured":"Laskin GR, Cabrera AR, Greene NP et al (2024) The mechanosensitive gene arrestin domain containing 2 regulates myotube diameter with direct implications for disuse atrophy with aging. Am J Physiol Cell Physiol. https:\/\/doi.org\/10.1152\/ajpcell.00444.2023","journal-title":"Am J Physiol Cell Physiol"},{"key":"5512_CR43","doi-asserted-by":"publisher","first-page":"1350","DOI":"10.1172\/JCI71206","volume":"124","author":"BS Cowling","year":"2014","unstructured":"Cowling BS, Chevremont T, Prokic I et al (2014) Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. J Clin Invest 124:1350\u20131363. https:\/\/doi.org\/10.1172\/JCI71206","journal-title":"J Clin Invest"},{"key":"5512_CR44","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1016\/j.ymthe.2019.10.018","volume":"28","author":"J-B Dupont","year":"2020","unstructured":"Dupont J-B, Guo J, Renaud-Gabardos E et al (2020) AAV-Mediated gene transfer restores a normal muscle transcriptome in a Canine Model of X-Linked Myotubular Myopathy. Mol Ther J Am Soc Gene Ther 28:382\u2013393. https:\/\/doi.org\/10.1016\/j.ymthe.2019.10.018","journal-title":"Mol Ther J Am Soc Gene Ther"},{"key":"5512_CR45","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1016\/j.ajhg.2014.07.004","volume":"95","author":"PB Agrawal","year":"2014","unstructured":"Agrawal PB, Pierson CR, Joshi M et al (2014) SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet 95:218\u2013226. https:\/\/doi.org\/10.1016\/j.ajhg.2014.07.004","journal-title":"Am J Hum Genet"},{"key":"5512_CR46","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1161\/CIRCULATIONAHA.108.799536","volume":"119","author":"X Liu","year":"2009","unstructured":"Liu X, Ramjiganesh T, Chen Y-H et al (2009) Disruption of striated preferentially expressed gene locus leads to dilated cardiomyopathy in mice. Circulation 119:261\u2013268. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.108.799536","journal-title":"Circulation"},{"key":"5512_CR47","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1016\/j.cca.2019.04.005","volume":"495","author":"T Misaka","year":"2019","unstructured":"Misaka T, Yoshihisa A, Takeishi Y (2019) Titin in muscular dystrophy and cardiomyopathy: urinary titin as a novel marker. Clin Chim Acta Int J Clin Chem 495:123\u2013128. https:\/\/doi.org\/10.1016\/j.cca.2019.04.005","journal-title":"Clin Chim Acta Int J Clin Chem"},{"key":"5512_CR48","doi-asserted-by":"publisher","first-page":"15661","DOI":"10.1038\/ncomms15661","volume":"8","author":"H Tasfaout","year":"2017","unstructured":"Tasfaout H, Buono S, Guo S et al (2017) Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice. Nat Commun 8:15661. https:\/\/doi.org\/10.1038\/ncomms15661","journal-title":"Nat Commun"},{"key":"5512_CR49","doi-asserted-by":"publisher","first-page":"4820","DOI":"10.1073\/pnas.96.9.4820","volume":"96","author":"LA Esposito","year":"1999","unstructured":"Esposito LA, Melov S, Panov A et al (1999) Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci 96:4820\u20134825. https:\/\/doi.org\/10.1073\/pnas.96.9.4820","journal-title":"Proc Natl Acad Sci"},{"key":"5512_CR50","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1006\/scdb.2000.0236","volume":"12","author":"H Stenmark","year":"2001","unstructured":"Stenmark H, Gillooly DJ (2001) Intracellular trafficking and turnover of phosphatidylinositol 3-phosphate. Semin Cell Dev Biol 12:193\u2013199. https:\/\/doi.org\/10.1006\/scdb.2000.0236","journal-title":"Semin Cell Dev Biol"},{"key":"5512_CR51","doi-asserted-by":"publisher","first-page":"2457","DOI":"10.1038\/emboj.2008.169","volume":"27","author":"M Vicinanza","year":"2008","unstructured":"Vicinanza M, D\u2019Angelo G, Di Campli A, De Matteis MA (2008) Function and dysfunction of the PI system in membrane trafficking. EMBO J 27:2457\u20132470. https:\/\/doi.org\/10.1038\/emboj.2008.169","journal-title":"EMBO J"},{"key":"5512_CR52","doi-asserted-by":"publisher","first-page":"e1001295","DOI":"10.1371\/journal.pgen.1001295","volume":"7","author":"I Ribeiro","year":"2011","unstructured":"Ribeiro I, Yuan L, Tanentzapf G et al (2011) Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance. PLoS Genet 7:e1001295. https:\/\/doi.org\/10.1371\/journal.pgen.1001295","journal-title":"PLoS Genet"},{"key":"5512_CR53","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1093\/hmg\/ddr512","volume":"21","author":"CR Pierson","year":"2012","unstructured":"Pierson CR, Dulin-Smith AN, Durban AN et al (2012) Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet 21:811\u2013825. https:\/\/doi.org\/10.1093\/hmg\/ddr512","journal-title":"Hum Mol Genet"},{"key":"5512_CR54","doi-asserted-by":"publisher","first-page":"220ra10","DOI":"10.1126\/scitranslmed.3007523","volume":"6","author":"MK Childers","year":"2014","unstructured":"Childers MK, Joubert R, Poulard K et al (2014) Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Sci Transl Med 6:220ra10. https:\/\/doi.org\/10.1126\/scitranslmed.3007523","journal-title":"Sci Transl Med"},{"key":"5512_CR55","doi-asserted-by":"publisher","first-page":"503","DOI":"10.3233\/JND-210781","volume":"9","author":"JJ Dowling","year":"2022","unstructured":"Dowling JJ, M\u00fcller-Felber W, Smith BK et al (2022) INCEPTUS Natural History, run-in study for gene replacement clinical trial in X-Linked Myotubular Myopathy. J Neuromuscul Dis 9:503\u2013516. https:\/\/doi.org\/10.3233\/JND-210781","journal-title":"J Neuromuscul Dis"},{"key":"5512_CR56","doi-asserted-by":"publisher","first-page":"1355","DOI":"10.1212\/WNL.0000000000004415","volume":"89","author":"K Amburgey","year":"2017","unstructured":"Amburgey K, Tsuchiya E, de Chastonay S et al (2017) A natural history study of X-linked myotubular myopathy. Neurology 89:1355\u20131364. https:\/\/doi.org\/10.1212\/WNL.0000000000004415","journal-title":"Neurology"},{"key":"5512_CR57","doi-asserted-by":"publisher","first-page":"6219","DOI":"10.4049\/jimmunol.175.9.6219","volume":"175","author":"K Wenzel","year":"2005","unstructured":"Wenzel K, Zabojszcza J, Carl M et al (2005) Increased susceptibility to complement attack due to down-regulation of decay-accelerating Factor\/CD55 in dysferlin-deficient muscular Dystrophy12. J Immunol 175:6219\u20136225. https:\/\/doi.org\/10.4049\/jimmunol.175.9.6219","journal-title":"J Immunol"},{"key":"5512_CR58","doi-asserted-by":"publisher","first-page":"4366","DOI":"10.1172\/JCI42390","volume":"120","author":"R Han","year":"2010","unstructured":"Han R, Frett EM, Levy JR et al (2010) Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice. J Clin Invest 120:4366\u20134374. https:\/\/doi.org\/10.1172\/JCI42390","journal-title":"J Clin Invest"},{"key":"5512_CR59","doi-asserted-by":"publisher","first-page":"3736","DOI":"10.1093\/hmg\/ddx258","volume":"26","author":"MA Raess","year":"2017","unstructured":"Raess MA, Cowling BS, Bertazzi DL et al (2017) Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy. Hum Mol Genet 26:3736\u20133748. https:\/\/doi.org\/10.1093\/hmg\/ddx258","journal-title":"Hum Mol Genet"},{"key":"5512_CR60","doi-asserted-by":"publisher","first-page":"3258","DOI":"10.1172\/JCI46267","volume":"121","author":"N Liu","year":"2011","unstructured":"Liu N, Bezprozvannaya S, Shelton JM et al (2011) Mice lacking microRNA 133a develop dynamin 2\u2013dependent centronuclear myopathy. J Clin Invest 121:3258\u20133268. https:\/\/doi.org\/10.1172\/JCI46267","journal-title":"J Clin Invest"},{"key":"5512_CR61","doi-asserted-by":"publisher","first-page":"e151933","DOI":"10.1172\/jci.insight.151933","volume":"8","author":"X Massana-Mu\u00f1oz","year":"2023","unstructured":"Massana-Mu\u00f1oz X, Goret M, Nattarayan V et al (2023) Inactivating the lipid kinase activity of PI3KC2\u03b2 is sufficient to rescue myotubular myopathy in mice. JCI Insight 8:e151933. https:\/\/doi.org\/10.1172\/jci.insight.151933","journal-title":"JCI Insight"},{"key":"5512_CR62","doi-asserted-by":"publisher","first-page":"3613","DOI":"10.1172\/JCI86841","volume":"126","author":"N Sabha","year":"2016","unstructured":"Sabha N, Volpatti JR, Gonorazky H et al (2016) PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. J Clin Invest 126:3613\u20133625. https:\/\/doi.org\/10.1172\/JCI86841","journal-title":"J Clin Invest"},{"key":"5512_CR63","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1038\/nm.3543","volume":"20","author":"T Hong","year":"2014","unstructured":"Hong T, Yang H, Zhang S-S et al (2014) Cardiac BIN1 folds T-tubule membrane, controlling ion flux and limiting arrhythmia. Nat Med 20:624\u2013632. https:\/\/doi.org\/10.1038\/nm.3543","journal-title":"Nat Med"}],"container-title":["Cellular and Molecular Life Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00018-024-05512-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00018-024-05512-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00018-024-05512-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T10:03:51Z","timestamp":1733220231000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00018-024-05512-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12]]},"references-count":63,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["5512"],"URL":"https:\/\/doi.org\/10.1007\/s00018-024-05512-9","relation":{},"ISSN":["1420-682X","1420-9071"],"issn-type":[{"value":"1420-682X","type":"print"},{"value":"1420-9071","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12]]},"assertion":[{"value":"9 October 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 September 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 November 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 December 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures involving animals followed the European directive 2010\/63\/EU of September 22, 2010, and ethical approval was granted by the Ethics Committee of the French ministry for Research (APAFIS#4469-2016031110589922, APAFIS #35398-2022021019049942).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors have no relevant financial or non-financial interests to disclose.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"476"}}