MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.

@article{Makedonski2005MeCP2DI,
  title={MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.},
  author={Kirill Makedonski and Liron Abuhatzira and Yotam Kaufman and Aharon Razin and Ruth Shemer},
  journal={Human molecular genetics},
  year={2005},
  volume={14 8},
  pages={1049-58}
}
Rett syndrome (RS) is a severe and progressive neurodevelopmental disorder caused by heterozygous mutations in the X-linked methyl CpG binding protein 2 (MeCP2) gene. MeCP2 is a nuclear protein that binds specifically to methylated DNA and functions as a general transcription repressor in the context of chromatin remodeling complexes. RS shares clinical features with those of Angelman syndrome (AS), an imprinting neurodevelopmental disorder. In AS patients, the maternally expressed copy of… CONTINUE READING

From This Paper

Figures and tables from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 59 extracted citations

Ube3a expression is not altered in Mecp2 mutant mice.

Human molecular genetics • 2006
View 7 Excerpts
Highly Influenced

E6AP in the Brain: One Protein, Dual Function, Multiple Diseases

Molecular Neurobiology • 2013
View 6 Excerpts
Highly Influenced

References

Publications referenced by this paper.
Showing 1-10 of 39 references

Rett syndrome: a prototypical neurodevelopmental disorder.

The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry • 2004

Similar Papers

Loading similar papers…