Ottavia Spiga

Ilaria Meloni3
Francesca Ariani3
Maria Antonietta Mencarelli3
3Ilaria Meloni
3Francesca Ariani
3Maria Antonietta Mencarelli
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Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification of FOXG1-truncating mutations in two patients affected by the congenital variant of Rett syndrome. FOXG1 encodes a brain-specific transcriptional repressor that is essential for(More)
  • Elisa Grillo, Caterina Lo Rizzo, Laura Bianciardi, Veronica Bizzarri, Margherita Baldassarri, Ottavia Spiga +12 others
  • 2013
Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as a large variety of phenotypes ranging from very severe to mild disease. Since there is a weak correlation between the mutation type in the Xq28 disease-gene MECP2/X-inactivation status and phenotypic variability, we used this disease as a model to unveil the complex nature of a(More)
MOTIVATION For a complex molecular system the delineation of atom-atom contacts, exposed surface and binding sites represents a fundamental step to predict its interaction with solvent, ligands and other molecules. Recently, atom depth has been also considered as an additional structural descriptor to correlate protein structure with folding and functional(More)
The S1 and S2 subunits of the spike glycoprotein of the coronavirus which is responsible for the severe acute respiratory syndrome (SARS) have been modelled, even though the corresponding amino acid sequences were not suitable for tertiary structure predictions with conventional homology and/or threading procedures. An indirect search for a protein(More)
Defining the amino acid composition of protein cores is fundamental for understanding protein folding, as different architectures might achieve structural stability only in the presence of specific amino acid networks. Quantitative characterization of protein cores in relation to the corresponding structures and dynamics is needed to increase the(More)
  • Laura Bianciardi, Marco Fichera, Pinella Failla, Chiara Di Marco, Detelina Grozeva, Maria Antonietta Mencarelli +7 others
  • 2016
Methyl-CpG-binding protein 2 (MeCP2) is a nuclear protein highly expressed in neurons that is involved in transcriptional modulation and chromatin remodeling. Mutations in MECP2 in females are associated with Rett syndrome, a neurological disorder characterized by a normal neonatal period, followed by the arrest of development and regression of acquired(More)
BACKGROUND How proteins approach surrounding molecules is fundamental to our understanding of the specific interactions that occur at the surface of proteins. The enhanced surface accessibility of small molecules such as organic solvents and paramagnetic probes to protein binding sites has been observed; however, the molecular basis of this finding has not(More)
Running title: NMR use of a ditopic Gd(III) paramagnetic probe Summary The surface accessibility of α-bungarotoxin has been investigated by using Gd 2 L7, a newly designed paramagnetic NMR probe. Signal attenuations induced by Gd 2 L7 on α-bungarotoxin CαH peaks of 1 H-13 C HSQC spectra have been analyzed and compared with the ones previously obtained in(More)
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