Published in J Biol Chem on August 05, 2015
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84
Imaging neuronal subsets in transgenic mice expressing multiple spectral variants of GFP. Neuron (2000) 22.02
The story of Rett syndrome: from clinic to neurobiology. Neuron (2007) 8.08
Nucleocytoplasmic transport: signals, mechanisms and regulation. Nature (1997) 7.47
Crystallographic analysis of the recognition of a nuclear localization signal by the nuclear import factor karyopherin alpha. Cell (1998) 5.27
Structure of importin-beta bound to the IBB domain of importin-alpha. Nature (1999) 4.05
Protein migration into nuclei. I. Frog oocyte nuclei in vivo accumulate microinjected histones, allow entry to small proteins, and exclude large proteins. J Cell Biol (1975) 4.04
Importin alpha: a multipurpose nuclear-transport receptor. Trends Cell Biol (2004) 3.64
DNA methylation specifies chromosomal localization of MeCP2. Mol Cell Biol (1996) 3.10
Molecular basis for specificity of nuclear import and prediction of nuclear localization. Biochim Biophys Acta (2010) 2.20
Nucleocytoplasmic exchange of macromolecules. Exp Cell Res (1972) 2.11
Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology (2008) 2.10
Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med (2011) 2.04
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. Nat Neurosci (2013) 1.74
An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell (2013) 1.49
Karyopherin alpha7 (KPNA7), a divergent member of the importin alpha family of nuclear import receptors. BMC Cell Biol (2010) 1.36
The maximal size of protein to diffuse through the nuclear pore is larger than 60kDa. FEBS Lett (2007) 1.30
Refining the phenotype of common mutations in Rett syndrome. J Med Genet (2004) 1.22
Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics (2002) 1.17
p.R270X MECP2 mutation and mortality in Rett syndrome. Eur J Hum Genet (2005) 1.05
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. Hum Mutat (2003) 1.04
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Elife (2014) 1.02
Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. Hum Mol Genet (2015) 0.84
MeCP2 mutant protein is expressed in astrocytes as well as in neurons and localizes in the nucleus. Cytogenet Genome Res (2010) 0.81