| 1 | CDKL5, MAP1S
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| Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics
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| Baltussen LL, Negraes PD, Silvestre M, Claxton S, Moeskops M, Christodoulou E, Flynn HR, Snijders AP, Muotri AR, Ultanir SK.
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| EMBO J. Dec 14;37(24):e99763. doi: 10.15252/embj.201899763. Epub 2018 Sep 28. 2018
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| 2 | CDKL5
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| Mutations in the C-terminus of CDKL5: proceed with caution.
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| Diebold B, Delépine C, Gataullina S, Delahaye A, Nectoux J, Bienvenu T.
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| Eur J Hum Genet 22(2):270-2. doi: 10.1038/ejhg.2013.133. Epub 2013 Jun 12.
2014
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| 3 | CDKL5, EIEE2, FOXG1, MECP2, RTT, RTTL1
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| CAGE-defined promoter regions of the genes implicated in Rett Syndrome.
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| Vitezic M, Bertin N, Andersson R, Lipovich L, Kawaji H, Lassmann T, Sandelin A, Heutink P, Goldowitz D, Ha T, Zhang P, Patrizi A, Fagiolini M, Forrest AR, Carninci P, Saxena A.
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| BMC Genomics 15(1):1177. [Epub ahead of print]
2014
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| 4 | CDKL5, DLG4
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| Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development.
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| Zhu YC, Li D, Wang L, Lu B, Zheng J, Zhao SL, Zeng R, Xiong ZQ.
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| Proc Natl Acad Sci U S A 110(22):9118-23. doi: 10.1073/pnas.1300003110. Epub 2013 May 13.
2013
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| 5 | AMPH, CDKL5
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| Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder.
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| Sekiguchi M, Katayama S, Hatano N, Shigeri Y, Sueyoshi N, Kameshita I.
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| Arch Biochem Biophys 535(2):257-67. doi: 10.1016/j.abb.2013.04.012. Epub 2013 May 4.
2013
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| 6 | ARX, CDKL5
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| CDKL5 and ARX mutations in males with early-onset epilepsy.
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| Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S.
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| Pediatr Neurol 48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030. Erratum in: Pediatr Neurol. 2013 Jul;49(1):74. Alkhateeb, Asem [added].
2013
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| 7 | CDKL5, EIEE2
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| Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.
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| Hagebeuk EE, van den Bossche RA, de Weerd AW.
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| Dev Med Child Neurol 55(5):480-4. doi: 10.1111/j.1469-8749.2012.04432.x. Epub 2012 Nov 14.
2013
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| 8 | ARX, CDKL5, EIEE1, EIEE2, ISSX
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| CDKL5 and ARX mutations in males with early-onset epilepsy.
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| Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S.
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| Pediatr Neurol 48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030. Erratum in: Pediatr Neurol. 2013 Jul;49(1):74. Alkhateeb, Asem [added].
2013
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| 9 | CDKL5, DLG4, LRRC4C
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| CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.
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| Ricciardi S, Ungaro F, Hambrock M, Rademacher N, Stefanelli G, Brambilla D, Sessa A, Magagnotti C, Bachi A, Giarda E, Verpelli C, Kilstrup-Nielsen C, Sala C, Kalscheuer VM, Broccoli V.
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| Nat Cell Biol 14(9):911-23. doi: 10.1038/ncb2566. Epub 2012 Aug 26.
2012
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| 10 | CDKL5, MYCN
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| CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells.
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| Valli E, Trazzi S, Fuchs C, Erriquez D, Bartesaghi R, Perini G, Ciani E.
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| Biochim Biophys Acta 1819(11-12):1173-85. doi: 10.1016/j.bbagrm.2012.08.001. Epub 2012 Aug 19.
2012
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| 11 | CDKL5, EIEE2, ISSX
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| Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
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| Bartnik M, Derwińska K, Gos M, Obersztyn E, Kołodziejska KE, Erez A, Szpecht-Potocka A, Fang P, Terczyńska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P.
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| Genet Med 13(5):447-52.
2011
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| 12 | CDKL5
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| Extrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation.
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| Rusconi L, Kilstrup-Nielsen C, Landsberger N.
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| J Biol Chem 286(42):36550-8. doi: 10.1074/jbc.M111.235630. Epub 2011 Aug 5.
2011
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| 13 | CDKL5
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| An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.
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| Fichou Y, Nectoux J, Bahi-Buisson N, Chelly J, Bienvenu T.
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| J Hum Genet 56(1):52-7. doi: 10.1038/jhg.2010.143. Epub 2010 Dec 2.
2011
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| 14 | CDKL5, ISSX
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| CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.
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| Córdova-Fletes C, Rademacher N, Müller I, Mundo-Ayala JN, Morales-Jeanhs EA, García-Ortiz JE, León-Gil A, Rivera H, Domínguez MG, Kalscheuer VM.
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| Clin Genet 77(1):92-6. Epub 2009 Oct 5. No abstract available.
2010
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| 15 | CDKL5, EIEE2, ISSX
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| Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
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| Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R.
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| Epilepsia 51(4):647-54. Epub 2009 Sep 22.
2010
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| 16 | CDKL5, EIEE2
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| A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.
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| Sprovieri T, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A.
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| Am J Med Genet A 149A(4):722-5. 2009
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| 17 | CDKL5, EIEE2, ISSX
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| Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
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| Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C.
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| Clin Genet 76(4):357-71. Review.PMID: 19793311 2009
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| 18 | CDKL5
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| CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.
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| Ricciardi S, Kilstrup-Nielsen C, Bienvenu T, Jacquette A, Landsberger N, Broccoli V.
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| Hum Mol Genet 18(23):4590-602. Epub 2009 Sep 9.PMID: 19740913 2009
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| 19 | CDKL5, ISSX
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| Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
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| Fichou Y, Bieth E, Bahi-Buisson N, Nectoux J, Girard B, Chelly J, Chaix Y, Bienvenu T.
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| Neurology 73(1):77-8; author reply 78. No abstract available. PMID: 19564592 2009
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| 20 | CDKL5, ISSX
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| Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
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| Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.
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| Neurogenetics 10(3):241-50. Epub 2009 Feb 25.PMID: 19241098 2009
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| 21 | CDKL5, EIEE2
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| Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.
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| Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T.
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| J Med Genet 45(3):172-8. Epub 2007 Nov 9. 2008
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| 22 | CDKL5, ISSX
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| CDKL5 disruption by t(X;18) in a girl with West syndrome.
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| Nishimura A, Takano T, Mizuguchi T, Saitsu H, Takeuchi Y, Matsumoto N.
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| Clin Genet 74(3):288-90. Epub 2008 Jun 28. No abstract available.
2008
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| 23 | CDKL5, RTT
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| CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail.
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| Rusconi L, Salvatoni L, Giudici L, Bertani I, Kilstrup-Nielsen C, Broccoli V, Landsberger N.
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| J Biol Chem 283(44):30101-11. Epub 2008 Aug 13.
2008
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| 24 | CDKL5, EIEE2, ISSX
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| CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
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| Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M.
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| Neurology 71(13):997-9.
2008
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| 25 | CDKL5, EIEE2, ISSX
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| Key clinical features to identify girls with CDKL5 mutations.
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| Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T.
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| Brain 131(Pt 10):2647-61. Epub 2008 Sep 12.
2008
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| 26 | CDKL5, EIEE2, ISSX
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| Myoclonic encephalopathy in the CDKL5 gene mutation.
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| Buoni S, Zannolli R, Colamaria V, Macucci F, di Bartolo RM, Corbini L, Orsi A, Zappella M, Hayek J.
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| Clin Neurophysiol 117(1):223-7. Epub 2005 Dec 2. 2006
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| 27 | CDKL5, EIEE2, ISSX
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| CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
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| Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.
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| J Med Genet 43(9):729-34. Epub 2006 Apr 12. 2006
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| 28 | CDKL5, ISSX,RTTA
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| Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.
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| Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T.
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| Clin Genet 70(1):29-33. 2006
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| 29 | CDKL5, EIEE2, ISSX
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| Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.
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| Bertani I, Rusconi L, Bolognese F, Forlani G, Conca B, De Monte L, Badaracco G, Landsberger N, Kilstrup-Nielsen C.
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| J Biol Chem 281(42):32048-56. Epub 2006 Aug 24. 2006
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| 30 | CDKL5, EIEE2, RTT
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| CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
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| Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A.
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| J Med Genet 42(2):103-7. 2005
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| 31 | CDKL5, EIEE2, ISSX, RTT
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| CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
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| Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N.
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| Hum Mol Genet 14(14):1935-46. Epub 2005 May 25. 2005
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| 32 | CDKL5, EIEE2, ISSX
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| Early onset seizures and Rett-like features associated with mutations in CDKL5.
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| Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gecz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ.
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| Eur J Hum Genet 13(10):1113-20. 2005
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| 33 | CDKL5, EIEE2, ISSX, MECP2, RTT
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| CDKL5 and MeCP2: partners in Rett pathogenesis.
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| Warby S.
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| Clin Genet 68(6):497-500. No abstract available. 2005
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| 34 | CDKL5, EIEE2, ISSX
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| CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
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| Lin C, Franco B, Rosner MR.
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| Hum Mol Genet 14(24):3775-86. Epub 2005 Dec 5. 2005
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| 35 | CDKL5, EIEE2, ISSX
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| Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
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| Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gecz J, Ropers HH, Kalscheuer VM.
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| Am J Hum Genet 75(6):1149-54. 2004
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| 36 | CDKL5, EIEE2, ISSX, MECP2, RTT
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| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
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| Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gecz J.
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| Am J Hum Genet 75(6):1079-93. Epub 2004 Oct 18. 2004
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| 37 | CDKL1, CDKL2, CDKL5, EIEE2, ISSX
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| Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
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| Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gecz J.
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| Am J Hum Genet 72(6):1401-11. Epub 2003 May 07. 2003
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| 38 | CDKL5
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| Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.
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| Montini E, et al.
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| Genomics 51 : 427-433. 1998
|