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

Filesi, Ilaria; Gullotta, Francesca; Lattanzi, Giovanna; Rosaria D'Apice, Maria; Capanni, Cristina; Maria Nardone, Anna; Columbaro, Marta; Scarano, Gioacchino; Mattioli, Elisabetta; Sabatelli, Patrizia; M Maraldi, Nadir; Biocca, Silvia; Novelli, Giuseppe

doi:10.1152/physiolgenomics.00060.2005

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

Shared by NobleBlocks on Oct 17, 2005 • 12:00 AM UTC

Authors:

Ilaria Filesi

Francesca Gullotta

Giovanna Lattanzi

Abstract

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 o...

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