{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T21:07:41Z","timestamp":1790197661075,"version":"4.1.0"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"24","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,12,15]]},"DOI":"10.1093\/hmg\/ddi391","type":"journal-article","created":{"date-parts":[[2005,12,6]],"date-time":"2005-12-06T01:14:14Z","timestamp":1133831654000},"page":"3775-3786","source":"Crossref","is-referenced-by-count":117,"title":["CDKL5\/Stk9 kinase inactivation is associated with neuronal developmental disorders"],"prefix":"10.1093","volume":"14","author":[{"given":"Clark","family":"Lin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brunella","family":"Franco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marsha Rich","family":"Rosner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2005,12,5]]},"reference":[{"key":"key\n\t\t\t\t20171011121857_DDI391C1","doi-asserted-by":"crossref","unstructured":"Kalscheuer, V.M., Tao, J., Donnelly, A., Hollway, G., Schwinger, E., Kubart, S., Menzel, C., Hoeltzenbein, M., Tommerup, N., Eyre, H. et\u00a0al. ( 2003 ) Disruption of the serine\/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am. J. Hum. Genet. , 72 , 1401 \u20131411.","DOI":"10.1086\/375538"},{"key":"key\n\t\t\t\t20171011121857_DDI391C2","doi-asserted-by":"crossref","unstructured":"Tao, J., Van Esch, H., Hagedorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., Sperner, J., Fryns, J.P., Schwinger, E., Gecz, J. et\u00a0al. ( 2004 ) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5\/STK9) gene are associated with severe neurodevelopmental retardation. Am. J. Hum. Genet. , 75 , 1149 \u20131154.","DOI":"10.1086\/426460"},{"key":"key\n\t\t\t\t20171011121857_DDI391C3","doi-asserted-by":"crossref","unstructured":"Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P. et\u00a0al. ( 2004 ) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am. J. Hum. Genet. , 75 , 1079 \u20131093.","DOI":"10.1086\/426462"},{"key":"key\n\t\t\t\t20171011121857_DDI391C4","doi-asserted-by":"crossref","unstructured":"Scala, E., Ariani, F., Mari, F., Caselli, R., Pescucci, C., Longo, I., Meloni, I., Giachino, D., Bruttini, M., Hayek, G. et\u00a0al. ( 2005 ) CDKL5\/STK9 is mutated in Rett syndrome variant with infantile spasms. J. Med. Genet. , 42 , 103 \u2013107.","DOI":"10.1136\/jmg.2004.026237"},{"key":"key\n\t\t\t\t20171011121857_DDI391C5","doi-asserted-by":"crossref","unstructured":"Evans, J.C., Archer, H.L., Colley, J.P., Ravn, K., Nielsen, J.B., Kerr, A., Williams, E., Christodoulou, J., Gecz, J., Jardine, P.E. et\u00a0al. ( 2005 ) Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur. J. Hum. Genet ., 13 , 1113 \u20131120.","DOI":"10.1038\/sj.ejhg.5201451"},{"key":"key\n\t\t\t\t20171011121857_DDI391C6","doi-asserted-by":"crossref","unstructured":"Van den Veyver, I.B. and Zoghbi, H.Y. ( 2002 ) Genetic basis of Rett syndrome. Ment. Retard. Dev. Disabil. Res. Rev. , 8 , 82 \u201386.","DOI":"10.1002\/mrdd.10025"},{"key":"key\n\t\t\t\t20171011121857_DDI391C7","doi-asserted-by":"crossref","unstructured":"Montini, E., Andolfi, G., Caruso, A., Buchner, G., Walpole, S.M., Mariani, M., Consalez, G., Trump, D., Ballabio, A. and Franco, B. ( 1998 ) Identification and characterization of a novel serine\u2013threonine kinase gene from the Xp22 region. Genomics , 51 , 427 \u2013433.","DOI":"10.1006\/geno.1998.5391"},{"key":"key\n\t\t\t\t20171011121857_DDI391C8","doi-asserted-by":"crossref","unstructured":"Kriaucionis, S. and Bird, A. ( 2004 ) The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res. , 32 , 1818 \u20131823.","DOI":"10.1093\/nar\/gkh349"},{"key":"key\n\t\t\t\t20171011121857_DDI391C9","doi-asserted-by":"crossref","unstructured":"Mnatzakanian, G.N., Lohi, H., Munteanu, I., Alfred, S.E., Yamada, T., MacLeod, P.J., Jones, J.R., Scherer, S.W., Schanen, N.C., Friez, M.J. et\u00a0al. ( 2004 ) A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat. Genet. , 36 , 339 \u2013341.","DOI":"10.1038\/ng1327"},{"key":"key\n\t\t\t\t20171011121857_DDI391C10","doi-asserted-by":"crossref","unstructured":"Mari, F., Azimonti, S., Bertani, I., Bolognese, F., Colombo, E., Caselli, R., Scala, E., Longo, I., Grosso, S., Pescucci, C. et\u00a0al. ( 2005 ) CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum. Mol. Genet. , 14 , 1935 \u20131946.","DOI":"10.1093\/hmg\/ddi198"},{"key":"key\n\t\t\t\t20171011121857_DDI391C11","doi-asserted-by":"crossref","unstructured":"Nan, X., Campoy, F.J. and Bird, A. ( 1997 ) MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell , 88 , 471 \u2013481.","DOI":"10.1016\/S0092-8674(00)81887-5"},{"key":"key\n\t\t\t\t20171011121857_DDI391C12","doi-asserted-by":"crossref","unstructured":"Pearson, G., Robinson, F., Beers Gibson, T., Xu, B., Karandikar, M., Berman, K. and Cobb, M.H. ( 2001 ) Mitogen-activated protein (map) kinase pathways: regulation and physiological functions. Endocr. Rev. , 22 , 153 \u2013183.","DOI":"10.1210\/er.22.2.153"},{"key":"key\n\t\t\t\t20171011121857_DDI391C13","doi-asserted-by":"crossref","unstructured":"Schwede, T., Kopp, J., Guex, N. and Peitsch, M.C. ( 2003 ) SWISS-MODEL: an automated protein homology-modeling server. Nucleic Acids Res. , 31 , 3381 \u20133385.","DOI":"10.1093\/nar\/gkg520"},{"key":"key\n\t\t\t\t20171011121857_DDI391C14","doi-asserted-by":"crossref","unstructured":"Hanks, S.K. and Hunter, T. ( 1995 ) Protein kinases 6. The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification. FASEB J. , 9 , 576 \u2013596.","DOI":"10.1096\/fasebj.9.8.7768349"},{"key":"key\n\t\t\t\t20171011121857_DDI391C15","doi-asserted-by":"crossref","unstructured":"Canagarajah, B.J., Khokhlatchev, A., Cobb, M.H. and Goldsmith, E.J. ( 1997 ) Activation mechanism of the MAP kinase ERK2 by dual phosphorylation. Cell , 90 , 859 \u2013869.","DOI":"10.1016\/S0092-8674(00)80351-7"},{"key":"key\n\t\t\t\t20171011121857_DDI391C16","doi-asserted-by":"crossref","unstructured":"Fu, Z., Schroeder, M.J., Shabanowitz, J., Kaldis, P., Togawa, K., Rustgi, A.K., Hunt, D.F. and Sturgill, T.W. ( 2005 ) Activation of a nuclear Cdc2-related kinase within a mitogen-activated protein kinase-like TDY motif by autophosphorylation and cyclin-dependent protein kinase-activating kinase. Mol. Cell. Biol. , 25 , 6047 \u20136064.","DOI":"10.1128\/MCB.25.14.6047-6064.2005"},{"key":"key\n\t\t\t\t20171011121857_DDI391C17","doi-asserted-by":"crossref","unstructured":"Hayashi, M. and Lee, J.D. ( 2004 ) Role of the BMK1\/ERK5 signaling pathway: lessons from knockout mice. J. Mol. Med. , 82 , 800 \u2013808.","DOI":"10.1007\/s00109-004-0602-8"},{"key":"key\n\t\t\t\t20171011121857_DDI391C18","doi-asserted-by":"crossref","unstructured":"Huopaniemi, L., Tyynismaa, H., Rantala, A., Rosenberg, T. and Alitalo, T. ( 2000 ) Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. Hum. Mutat. , 16 , 307 \u2013314.","DOI":"10.1002\/1098-1004(200010)16:4<307::AID-HUMU3>3.0.CO;2-L"},{"key":"key\n\t\t\t\t20171011121857_DDI391C19","doi-asserted-by":"crossref","unstructured":"White, L.A., Keane, R.W. and Whittemore, S.R. ( 1994 ) Differentiation of an immortalized CNS neuronal cell line decreases their susceptibility to cytotoxic T cell lysis in vitro . J. Neuroimmunol. , 49 , 135 \u2013143.","DOI":"10.1016\/0165-5728(94)90189-9"},{"key":"key\n\t\t\t\t20171011121857_DDI391C20","doi-asserted-by":"crossref","unstructured":"Eves, E.M., Kwon, J., Downen, M., Tucker, M.S., Wainer, B.H. and Rosner, M.R. ( 1994 ) Conditional immortalization of neuronal cells from postmitotic cultures and adult CNS. Brain Res. , 656 , 396 \u2013404.","DOI":"10.1016\/0006-8993(94)91484-2"},{"key":"key\n\t\t\t\t20171011121857_DDI391C21","doi-asserted-by":"crossref","unstructured":"Abe, M.K., Saelzler, M.P., Espinosa, R., III, Kahle, K.T., Hershenson, M.B., Le Beau, M.M. and Rosner, M.R. ( 2002 ) ERK8, a new member of the mitogen-activated protein kinase family. J. Biol. Chem. , 277 , 16733 \u201316743.","DOI":"10.1074\/jbc.M112483200"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/14\/24\/3775\/17242115\/ddi391.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,11]],"date-time":"2020-04-11T10:43:52Z","timestamp":1586601832000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/14\/24\/3775\/2355843\/CDKL5Stk9-kinase-inactivation-is-associated-with"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12,5]]},"references-count":21,"journal-issue":{"issue":"24","published-online":{"date-parts":[[2005,12,5]]},"published-print":{"date-parts":[[2005,12,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddi391","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published-other":{"date-parts":[[2005,12,15]]},"published":{"date-parts":[[2005,12,5]]}}}