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Page 1
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.
Drongitis D, Caterino M, Verrillo L, Santonicola P, Costanzo M, Poeta L, Attianese B, Barra A, Terrone G, Lioi MB, Paladino S, Di Schiavi E, Costa V, Ruoppolo M, Miano MG. Drongitis D, et al. Among authors: lioi mb. Hum Mol Genet. 2022 Jun 4;31(11):1884-1908. doi: 10.1093/hmg/ddac028. Hum Mol Genet. 2022. PMID: 35094084 Free PMC article.
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa S, Paciolla M, Courtney M, Collombat P, Lioi MB, Gecz J, Ursini MV, Miano MG. Poeta L, et al. Among authors: lioi mb. Am J Hum Genet. 2013 Jan 10;92(1):114-25. doi: 10.1016/j.ajhg.2012.11.008. Epub 2012 Dec 13. Am J Hum Genet. 2013. PMID: 23246292 Free PMC article.
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
Poeta L, Padula A, Attianese B, Valentino M, Verrillo L, Filosa S, Shoubridge C, Barra A, Schwartz CE, Christensen J, van Bokhoven H, Helin K, Lioi MB, Collombat P, Gecz J, Altucci L, Di Schiavi E, Miano MG. Poeta L, et al. Among authors: lioi mb. Hum Mol Genet. 2019 Dec 15;28(24):4089-4102. doi: 10.1093/hmg/ddz254. Hum Mol Genet. 2019. PMID: 31691806 Free PMC article.
45 results