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A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels.
Zhou J, Cattoglio C, Shao Y, Tirumala HP, Vetralla C, Bajikar SS, Li Y, Chen H, Wang Q, Wu Z, Tang B, Zahabiyon M, Bajic A, Meng X, Ferrie JJ, LaGrone A, Zhang P, Kim JJ, Tang J, Liu Z, Darzacq X, Heintz N, Tjian R, Zoghbi HY. Zhou J, et al. Genes Dev. 2023 Oct 1;37(19-20):883-900. doi: 10.1101/gad.350733.123. Epub 2023 Oct 27. Genes Dev. 2023. PMID: 37890975 Free PMC article.
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.
Zhou J, Hamdan H, Yalamanchili HK, Pang K, Pohodich AE, Lopez J, Shao Y, Oses-Prieto JA, Li L, Kim W, Durham MA, Bajikar SS, Palmer DJ, Ng P, Thompson ML, Bebin EM, Müller AJ, Kuechler A, Kampmeier A, Haack TB, Burlingame AL, Liu Z, Rasband MN, Zoghbi HY. Zhou J, et al. Proc Natl Acad Sci U S A. 2022 Jan 25;119(4):e2119078119. doi: 10.1073/pnas.2119078119. Proc Natl Acad Sci U S A. 2022. PMID: 35074918 Free PMC article.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O; Undiagnosed Diseases Network; Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Ravenscroft TA, et al. Genet Med. 2021 Oct;23(10):1889-1900. doi: 10.1038/s41436-021-01216-8. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113007 Free PMC article.
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.
Bajikar SS, Sztainberg Y, Trostle AJ, Tirumala HP, Wan YW, Harrop CL, Bengtsson JD, Carvalho CMB, Pehlivan D, Suter B, Neul JL, Liu Z, Jafar-Nejad P, Rigo F, Zoghbi HY. Bajikar SS, et al. Hum Mol Genet. 2024 Nov 8;33(22):1986-2001. doi: 10.1093/hmg/ddae135. Hum Mol Genet. 2024. PMID: 39277796 Free PMC article.