{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:01:54Z","timestamp":1791928914771,"version":"4.3.4"},"reference-count":72,"publisher":"Oxford University Press (OUP)","issue":"22","license":[{"start":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T00:00:00Z","timestamp":1726358400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Development","award":["F32HD100048"],"award-info":[{"award-number":["F32HD100048"]}]},{"name":"Eunice Kennedy Shriver National Institute of Child Health and Development","award":["P50HD103555"],"award-info":[{"award-number":["P50HD103555"]}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS057819"],"award-info":[{"award-number":["R01NS057819"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Institute of National Institute of General Medical Sciences","award":["R01132589"],"award-info":[{"award-number":["R01132589"]}]},{"DOI":"10.13039\/100000011","name":"Howard Hughes Medical Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000011","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Genomic copy-number variations (CNVs) that can cause neurodevelopmental disorders often encompass many genes, which complicates our understanding of how individual genes within a CNV contribute to pathology. MECP2 duplication syndrome (MDS or MRXSL in OMIM; OMIM#300260) is one such CNV disorder caused by duplications spanning methyl CpG-binding protein 2 (MECP2) and other genes on Xq28. Using an antisense oligonucleotide (ASO) to normalize MECP2 dosage is sufficient to rescue abnormal neurological phenotypes in mouse models overexpressing MECP2 alone, implicating the importance of increased MECP2 dosage within CNVs of Xq28. However, because MDS CNVs span MECP2 and additional genes, we generated human neurons from multiple MDS patient-derived induced pluripotent cells (iPSCs) to evaluate the benefit of using an ASO against MECP2 in a MDS human neuronal context. Importantly, we identified a signature of genes that is partially and qualitatively modulated upon ASO treatment, pinpointed genes sensitive to MeCP2 function, and altered in a model of Rett syndrome, a neurological disorder caused by loss of MeCP2 function. Furthermore, the signature contained genes that are aberrantly altered in unaffected control human neurons upon MeCP2 depletion, revealing gene expression programs qualitatively sensitive to MeCP2 levels in human neurons. Lastly, ASO treatment led to a partial rescue of abnormal neuronal morphology in MDS neurons. All together, these data demonstrate that ASOs targeting MECP2 benefit human MDS neurons. Moreover, our study establishes a paradigm by which to evaluate the contribution of individual genes within a CNV to pathogenesis and to assess their potential as a therapeutic target.<\/jats:p>","DOI":"10.1093\/hmg\/ddae135","type":"journal-article","created":{"date-parts":[[2024,9,4]],"date-time":"2024-09-04T09:21:49Z","timestamp":1725441709000},"page":"1986-2001","source":"Crossref","is-referenced-by-count":15,"title":["Modeling antisense oligonucleotide therapy in\n                    <i>MECP2<\/i>\n                    duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels"],"prefix":"10.1093","volume":"33","author":[{"given":"Sameer S","family":"Bajikar","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital , 1250 Moursund Street, Houston, TX 77030,","place":["United States"]},{"name":"Department of Cell Biology, University of Virginia , 1340 Jefferson Park Avenue, Charlottesville, VA 22903,","place":["United States"]},{"name":"Department of Biomedical Engineering, University of Virginia , 415 Lane Road, Charlottesville, VA 22903,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yehezkel","family":"Sztainberg","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital , 1250 Moursund Street, Houston, TX 77030,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander J","family":"Trostle","sequence":"additional","affiliation":[{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital , 1250 Moursund Street, Houston, TX 77030,","place":["United States"]},{"name":"Department of Pediatrics, Baylor College of Medicine , One Baylor Plaza, Houston, TX 77030,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harini P","family":"Tirumala","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital , 1250 Moursund Street, Houston, TX 77030,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying-Wooi","family":"Wan","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital , 1250 Moursund Street, Houston, TX 77030,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline L","family":"Harrop","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, University of Virginia , 1340 Jefferson Park Avenue, Charlottesville, VA 22903,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesse D","family":"Bengtsson","sequence":"additional","affiliation":[{"name":"Pacific Northwest Research Institute , 720 Broadway, Seattle, WA 98122,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2090-298X","authenticated-orcid":false,"given":"Claudia M B","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Pacific Northwest Research Institute , 720 Broadway, Seattle, WA 98122,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davut","family":"Pehlivan","sequence":"additional","affiliation":[{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital , 1250 Moursund Street, Houston, TX 77030,","place":["United States"]},{"name":"Department of Pediatrics, Baylor College of Medicine , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Section of Neurology and Developmental Neuroscience , Department of Pediatrics, , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Baylor College of Medicine , Department of Pediatrics, , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Texas Children\u2019s Hospital , 6621 Fannin Street, Houston, TX 77030,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Suter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Baylor College of Medicine , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Section of Neurology and Developmental Neuroscience , Department of Pediatrics, , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Baylor College of Medicine , Department of Pediatrics, , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Texas Children\u2019s Hospital , 6621 Fannin Street, Houston, TX 77030,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey L","family":"Neul","sequence":"additional","affiliation":[{"name":"Vanderbilt Kennedy Center , 110 Magnolia Circle, , Nashville, TN 37232,","place":["United States"]},{"name":"Vanderbilt University Medical Center , 110 Magnolia Circle, , Nashville, TN 37232,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhandong","family":"Liu","sequence":"additional","affiliation":[{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital , 1250 Moursund Street, Houston, TX 77030,","place":["United States"]},{"name":"Department of Pediatrics, Baylor College of Medicine , One Baylor Plaza, Houston, TX 77030,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paymaan","family":"Jafar-Nejad","sequence":"additional","affiliation":[{"name":"Ionis Pharmaceuticals , 2855 Gazelle Court, Carlsbad, CA 92010,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rigo","sequence":"additional","affiliation":[{"name":"Ionis Pharmaceuticals , 2855 Gazelle Court, Carlsbad, CA 92010,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0700-3349","authenticated-orcid":false,"given":"Huda Y","family":"Zoghbi","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital , 1250 Moursund Street, Houston, TX 77030,","place":["United States"]},{"name":"Department of Pediatrics, Baylor College of Medicine , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Section of Neurology and Developmental Neuroscience , Department of Pediatrics, , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Baylor College of Medicine , Department of Pediatrics, , One Baylor Plaza, Houston, TX 77030,","place":["United States"]},{"name":"Texas Children\u2019s Hospital , 6621 Fannin Street, Houston, TX 77030,","place":["United States"]},{"name":"Howard Hughes Medical Institute, Baylor College of Medicine , Houston, TX 77030,","place":["United 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