{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T02:52:56Z","timestamp":1792810376794,"version":"4.5.0"},"reference-count":48,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T00:00:00Z","timestamp":1712275200000},"content-version":"vor","delay-in-days":187,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2023,10]]},"DOI":"10.1016\/j.ajhg.2023.08.008","type":"journal-article","created":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T10:35:22Z","timestamp":1693910122000},"page":"1648-1660","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["High-throughput transcriptome analyses from ASPIRO, a phase 1\/2\/3 study of gene replacement therapy for X-linked myotubular myopathy"],"prefix":"10.1016","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0452-0009","authenticated-orcid":false,"given":"Gaia","family":"Andreoletti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oriana","family":"Romano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsin-Jung","family":"Chou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahjoubeh J.","family":"Sefid-Dashti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Grilli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarice","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neema","family":"Lakshman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pravin","family":"Purushothaman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatbardha","family":"Varfaj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fulvio","family":"Mavilio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvio","family":"Bicciato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizia","family":"Urbinati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2023.08.008_bib1","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/sj.ejhg.5200189","article-title":"Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy","volume":"6","author":"Laporte","year":"1998","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2023.08.008_bib2","first-page":"1019","article-title":"Costs and health resource use in patients with X-linked myotubular myopathy: insights from US commercial claims","volume":"27","author":"Sacks","year":"2021","journal-title":"J.\u00a0Manag. Care Spec. Pharm."},{"key":"10.1016\/j.ajhg.2023.08.008_bib3","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/S0168-9525(01)02245-4","article-title":"The myotubularin family: from genetic disease to phosphoinositide metabolism","volume":"17","author":"Laporte","year":"2001","journal-title":"Trends Genet."},{"key":"10.1016\/j.ajhg.2023.08.008_bib4","series-title":"GeneReviews((R))","article-title":"X-Linked Myotubular Myopathy","author":"Dowling","year":"1993"},{"key":"10.1016\/j.ajhg.2023.08.008_bib5","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1212\/WNL.0000000000004415","article-title":"A natural history study of X-linked myotubular myopathy","volume":"89","author":"Amburgey","year":"2017","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2023.08.008_bib6","doi-asserted-by":"crossref","first-page":"503","DOI":"10.3233\/JND-210781","article-title":"INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy","volume":"9","author":"Dowling","year":"2022","journal-title":"J.\u00a0Neuromuscul. Dis."},{"key":"10.1016\/j.ajhg.2023.08.008_bib7","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/mus.26018","article-title":"A multicenter, retrospective medical record review of X-linked myotubular myopathy: The RECENSUS study","volume":"57","author":"Beggs","year":"2018","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ajhg.2023.08.008_bib8","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1136\/archdischild-2019-317910","article-title":"Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis","volume":"105","author":"Graham","year":"2020","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ajhg.2023.08.008_bib9","doi-asserted-by":"crossref","first-page":"220ra10","DOI":"10.1126\/scitranslmed.3007523","article-title":"Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy","volume":"6","author":"Childers","year":"2014","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.ajhg.2023.08.008_bib10","doi-asserted-by":"crossref","first-page":"2132","DOI":"10.1093\/hmg\/ddn112","article-title":"AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis","volume":"17","author":"Buj-Bello","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2023.08.008_bib11","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/j.ymthe.2017.02.004","article-title":"Systemic AAV8-mediated gene therapy drives whole-body correction of myotubular myopathy in dogs","volume":"25","author":"Mack","year":"2017","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ajhg.2023.08.008_bib12","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.ymthe.2019.10.018","article-title":"AAV-mediated gene transfer restores a normal muscle transcriptome in a canine model of X-linked myotubular myopathy","volume":"28","author":"Dupont","year":"2020","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ajhg.2023.08.008_bib13","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2023.08.008_bib14","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1093\/nar\/gkz114","article-title":"The R package Rsubread is easier, faster, cheaper and better for alignment and quantification of RNA sequencing reads","volume":"47","author":"Liao","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2023.08.008_bib15","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1093\/bioinformatics\/btp616","article-title":"edgeR: a Bioconductor package for differential expression analysis of digital gene expression data","volume":"26","author":"Robinson","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2023.08.008_bib16","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1186\/s13059-015-0762-6","article-title":"Tools and best practices for data processing in allelic expression analysis","volume":"16","author":"Castel","year":"2015","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2023.08.008_bib17","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1186\/s13059-017-1349-1","article-title":"xCell: digitally portraying the tissue cellular heterogeneity landscape","volume":"18","author":"Aran","year":"2017","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2023.08.008_bib18","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/978-1-0716-0327-7_17","article-title":"EPIC: A Tool to Estimate the Proportions of Different Cell Types from Bulk Gene Expression Data","volume":"2120","author":"Racle","year":"2020","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ajhg.2023.08.008_bib19","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1038\/nmeth.3337","article-title":"Robust enumeration of cell subsets from tissue expression profiles","volume":"12","author":"Newman","year":"2015","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2023.08.008_bib20","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1007\/s00401-022-02468-7","article-title":"X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition","volume":"144","author":"Volpatti","year":"2022","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ajhg.2023.08.008_bib21","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1038\/s41467-019-09234-6","article-title":"Metascape provides a biologist-oriented resource for the analysis of systems-level datasets","volume":"10","author":"Zhou","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2023.08.008_bib22","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1038\/s42003-021-02000-9","article-title":"Transcriptomic analysis of immune cells in a multi-ethnic cohort of systemic lupus erythematosus patients identifies ethnicity- and disease-specific expression signatures","volume":"4","author":"Andreoletti","year":"2021","journal-title":"Commun. Biol."},{"key":"10.1016\/j.ajhg.2023.08.008_bib23","doi-asserted-by":"crossref","first-page":"4727","DOI":"10.1093\/bioinformatics\/btac589","article-title":"hCoCena: horizontal integration and analysis of transcriptomics datasets","volume":"38","author":"Oestreich","year":"2022","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2023.08.008_bib24","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1016\/j.celrep.2019.09.067","article-title":"Transcriptional Signature Derived from Murine Tumor-Associated Macrophages Correlates with Poor Outcome in Breast Cancer Patients","volume":"29","author":"Tuit","year":"2019","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2023.08.008_bib25","doi-asserted-by":"crossref","first-page":"C1183","DOI":"10.1152\/ajpcell.00568.2007","article-title":"Endogenous interferon-gamma is required for efficient skeletal muscle regeneration","volume":"294","author":"Cheng","year":"2008","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"10.1016\/j.ajhg.2023.08.008_bib26","doi-asserted-by":"crossref","first-page":"2424","DOI":"10.1111\/j.1582-4934.2008.00440.x","article-title":"Sonic hedgehog regulates angiogenesis and myogenesis during post-natal skeletal muscle regeneration","volume":"13","author":"Straface","year":"2009","journal-title":"J.\u00a0Cell Mol. Med."},{"key":"10.1016\/j.ajhg.2023.08.008_bib27","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.cell.2016.03.008","article-title":"Personalized Immunomonitoring Uncovers Molecular Networks that Stratify Lupus Patients","volume":"165","author":"Banchereau","year":"2016","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2023.08.008_bib28","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13073-020-00823-5","article-title":"Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients","volume":"13","author":"Aschenbrenner","year":"2021","journal-title":"Genome Med."},{"key":"10.1016\/j.ajhg.2023.08.008_bib29","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1038\/gt.2008.68","article-title":"Clinical gene therapy using recombinant adeno-associated virus vectors","volume":"15","author":"Mueller","year":"2008","journal-title":"Gene Ther."},{"key":"10.1016\/j.ajhg.2023.08.008_bib30","doi-asserted-by":"crossref","first-page":"658038","DOI":"10.3389\/fimmu.2021.658038","article-title":"Immunomodulation in Administration of rAAV: Preclinical and Clinical Adjuvant Pharmacotherapies","volume":"12","author":"Chu","year":"2021","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ajhg.2023.08.008_bib31","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/s41573-019-0012-9","article-title":"Adeno-associated virus vector as a platform for gene therapy delivery","volume":"18","author":"Wang","year":"2019","journal-title":"Nat. Rev. Drug Discov."},{"key":"10.1016\/j.ajhg.2023.08.008_bib32","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1016\/S0140-6736(17)31868-8","article-title":"Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial","volume":"390","author":"Russell","year":"2017","journal-title":"Lancet"},{"key":"10.1016\/j.ajhg.2023.08.008_bib33","doi-asserted-by":"crossref","first-page":"806","DOI":"10.2174\/1566524020999200730181042","article-title":"Recent Advances in the Analysis Full\/Empty Capsid Ratio and Genome Integrity of Adeno-associated Virus (AAV) Gene Delivery Vectors","volume":"20","author":"Hajba","year":"2020","journal-title":"Curr. Mol. Med."},{"key":"10.1016\/j.ajhg.2023.08.008_bib34","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1186\/s13023-021-02055-1","article-title":"Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies","volume":"16","author":"D'Amico","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2023.08.008_bib35","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.nmd.2021.04.009","article-title":"Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy","volume":"31","author":"Neese","year":"2021","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ajhg.2023.08.008_bib36","doi-asserted-by":"crossref","first-page":"79","DOI":"10.3233\/JND-200539","article-title":"Diagnosing X-linked myotubular myopathy - A German 20-year follow up experience","volume":"8","author":"Gangfuss","year":"2021","journal-title":"J.\u00a0Neuromuscul. Dis."},{"key":"10.1016\/j.ajhg.2023.08.008_bib37","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/humu.10033","article-title":"Characterization of mutations in fifty North American patients with X-linked myotubular myopathy","volume":"19","author":"Herman","year":"2002","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2023.08.008_bib38","doi-asserted-by":"crossref","first-page":"73","DOI":"10.3233\/JND-210712","article-title":"Intrahepatic cholestasis is a clinically significant feature associated with natural history of X-linked myotubular myopathy (XLMTM): A case series and biopsy report","volume":"9","author":"Molera","year":"2022","journal-title":"J.\u00a0Neuromuscul. Dis."},{"key":"10.1016\/j.ajhg.2023.08.008_bib39","doi-asserted-by":"crossref","first-page":"S44","DOI":"10.1016\/j.nmd.2022.07.012","article-title":"O.06 Long term outcomes for X-Linked myotubular Myopathy (XLMTM) with gene replacement therapy, resamirigene bilparvovec: Preliminary results from ASPIRO","volume":"32","author":"Shieh","year":"2022","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ajhg.2023.08.008_bib40","doi-asserted-by":"crossref","first-page":"e34613","DOI":"10.7554\/eLife.34613","article-title":"Transcriptional profiling reveals extraordinary diversity among skeletal muscle tissues","volume":"7","author":"Terry","year":"2018","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2023.08.008_bib41","series-title":"Pathobiology of Human Disease","first-page":"195","article-title":"Congenital Myopathies","author":"Lawlor","year":"2014"},{"key":"10.1016\/j.ajhg.2023.08.008_bib42","doi-asserted-by":"crossref","first-page":"31544","DOI":"10.1074\/jbc.M404704200","article-title":"Knockdown of MTP18, a novel phosphatidylinositol 3-kinase-dependent protein, affects mitochondrial morphology and induces apoptosis","volume":"279","author":"Tondera","year":"2004","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2023.08.008_bib43","doi-asserted-by":"crossref","first-page":"e110888","DOI":"10.1371\/journal.pone.0110888","article-title":"Integrative data mining highlights candidate genes for monogenic myopathies","volume":"9","author":"Abath Neto","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2023.08.008_bib44","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1161\/hh2301.100349","article-title":"Genetic manipulation of cardiac K(+) channel function in mice: what have we learned, and where do we go from here?","volume":"89","author":"Nerbonne","year":"2001","journal-title":"Circ. Res."},{"key":"10.1016\/j.ajhg.2023.08.008_bib45","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/S0092-8674(01)00586-4","article-title":"The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation","volume":"107","author":"Davis","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2023.08.008_bib46","doi-asserted-by":"crossref","first-page":"3265","DOI":"10.3390\/ijms22063265","article-title":"The Role of Innate and Adaptive Immune Cells in Skeletal Muscle Regeneration","volume":"22","author":"Ziemkiewicz","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ajhg.2023.08.008_bib47","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s10787-013-0177-5","article-title":"The multiple faces of CCL13 in immunity and inflammation","volume":"21","author":"Mendez-Enriquez","year":"2013","journal-title":"Inflammopharmacology"},{"key":"10.1016\/j.ajhg.2023.08.008_bib48","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1186\/s13075-015-0773-4","article-title":"Association of CXCL10 and CXCL13 levels with disease activity and cutaneous manifestation in active adult-onset Still's disease","volume":"17","author":"Han","year":"2015","journal-title":"Arthritis Res. Ther."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929723002847?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929723002847?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T20:57:40Z","timestamp":1783025860000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929723002847"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":48,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["S0002929723002847"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2023.08.008","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2023,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"High-throughput transcriptome analyses from ASPIRO, a phase 1\/2\/3 study of gene replacement therapy for X-linked myotubular myopathy","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2023.08.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}