Kilstrup-Nielsen C - Search Results

1

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

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. Mari F, et al. Hum Mol Genet. 2005 Jul 15;14(14):1935-46. doi: 10.1093/hmg/ddi198. Epub 2005 May 25. Hum Mol Genet. 2005. PMID: 15917271

2

Retinoic acid receptor alpha fusion to PML affects its transcriptional and chromatin-remodeling properties.

Segalla S, Rinaldi L, Kilstrup-Nielsen C, Badaracco G, Minucci S, Pelicci PG, Landsberger N. Segalla S, et al. Mol Cell Biol. 2003 Dec;23(23):8795-808. doi: 10.1128/MCB.23.23.8795-8808.2003. Mol Cell Biol. 2003. PMID: 14612419 Free PMC article.

3

A novel protein, Xenopus p20, influences the stability of MeCP2 through direct interaction.

Carro S, Bergo A, Mengoni M, Bachi A, Badaracco G, Kilstrup-Nielsen C, Landsberger N. Carro S, et al. J Biol Chem. 2004 Jun 11;279(24):25623-31. doi: 10.1074/jbc.M402571200. Epub 2004 Mar 31. J Biol Chem. 2004. PMID: 15056664 Free article.

4

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.

Bertani I, Rusconi L, Bolognese F, Forlani G, Conca B, De Monte L, Badaracco G, Landsberger N, Kilstrup-Nielsen C. Bertani I, et al. J Biol Chem. 2006 Oct 20;281(42):32048-56. doi: 10.1074/jbc.M606325200. Epub 2006 Aug 24. J Biol Chem. 2006. PMID: 16935860 Free article.

5

Spatio-temporal dynamics and localization of MeCP2 and pathological mutants in living cells.

Marchi M, Guarda A, Bergo A, Landsberger N, Kilstrup-Nielsen C, Ratto GM, Costa M. Marchi M, et al. Epigenetics. 2007 Sep;2(3):187-97. doi: 10.4161/epi.2.3.5057. Epub 2007 Sep 18. Epigenetics. 2007. PMID: 17965612

6

CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail.

Rusconi L, Salvatoni L, Giudici L, Bertani I, Kilstrup-Nielsen C, Broccoli V, Landsberger N. Rusconi L, et al. J Biol Chem. 2008 Oct 31;283(44):30101-11. doi: 10.1074/jbc.M804613200. Epub 2008 Aug 13. J Biol Chem. 2008. PMID: 18701457 Free PMC article.

7

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.

Ricciardi S, Kilstrup-Nielsen C, Bienvenu T, Jacquette A, Landsberger N, Broccoli V. Ricciardi S, et al. Hum Mol Genet. 2009 Dec 1;18(23):4590-602. doi: 10.1093/hmg/ddp426. Epub 2009 Sep 9. Hum Mol Genet. 2009. PMID: 19740913 Free article.

8

Methyl-CpG-binding protein 2 is phosphorylated by homeodomain-interacting protein kinase 2 and contributes to apoptosis.

Bracaglia G, Conca B, Bergo A, Rusconi L, Zhou Z, Greenberg ME, Landsberger N, Soddu S, Kilstrup-Nielsen C. Bracaglia G, et al. EMBO Rep. 2009 Dec;10(12):1327-33. doi: 10.1038/embor.2009.217. Epub 2009 Oct 9. EMBO Rep. 2009. PMID: 19820693 Free PMC article.

9

The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.

Forlani G, Giarda E, Ala U, Di Cunto F, Salani M, Tupler R, Kilstrup-Nielsen C, Landsberger N. Forlani G, et al. Hum Mol Genet. 2010 Aug 15;19(16):3114-23. doi: 10.1093/hmg/ddq214. Epub 2010 May 26. Hum Mol Genet. 2010. PMID: 20504995 Free PMC article.

10

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

Williamson SL, Giudici L, Kilstrup-Nielsen C, Gold W, Pelka GJ, Tam PP, Grimm A, Prodi D, Landsberger N, Christodoulou J. Williamson SL, et al. Hum Genet. 2012 Feb;131(2):187-200. doi: 10.1007/s00439-011-1058-x. Epub 2011 Jul 12. Hum Genet. 2012. PMID: 21748340

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