Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.

@article{Filesi2005AlterationsON,
  title={Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.},
  author={Ilaria Filesi and Francesca Gullotta and Giovanna Lattanzi and Maria Rosaria D'Apice and Cristina Capanni and Anna Maria Nardone and Marta Columbaro and Gioacchino Scarano and Elisabetta Mattioli and Patrizia Sabatelli and Nadir M. Maraldi and Silvia Biocca and Giuseppe Novelli},
  journal={Physiological genomics},
  year={2005},
  volume={23 2},
  pages={150-8}
}
Autosomal recessive mandibuloacral dysplasia [mandibuloacral dysplasia type A (MADA); Online Mendelian Inheritance in Man (OMIM) no. 248370] is caused by a mutation in LMNA encoding lamin A/C. Here we show that this mutation causes accumulation of the lamin A precursor protein, a marked alteration of the nuclear architecture and, hence, chromatin disorganization. Heterochromatin domains are altered or completely lost in MADA nuclei, consistent with the finding that heterochromatin-associated… CONTINUE READING