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Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
Martinelli S, Torreri P, Tinti M, Stella L, Bocchinfuso G, Flex E, Grottesi A, Ceccarini M, Palleschi A, Cesareni G, Castagnoli L, Petrucci TC, Gelb BD, Tartaglia M. Martinelli S, et al. Among authors: petrucci tc. Hum Mol Genet. 2008 Jul 1;17(13):2018-29. doi: 10.1093/hmg/ddn099. Epub 2008 Mar 27. Hum Mol Genet. 2008. PMID: 18372317 Free PMC article.
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.
Lanciotti A, Brignone MS, Molinari P, Visentin S, De Nuccio C, Macchia G, Aiello C, Bertini E, Aloisi F, Petrucci TC, Ambrosini E. Lanciotti A, et al. Among authors: petrucci tc. Hum Mol Genet. 2012 May 15;21(10):2166-80. doi: 10.1093/hmg/dds032. Epub 2012 Feb 9. Hum Mol Genet. 2012. PMID: 22328087
The beta1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis.
Brignone MS, Lanciotti A, Macioce P, Macchia G, Gaetani M, Aloisi F, Petrucci TC, Ambrosini E. Brignone MS, et al. Among authors: petrucci tc. Hum Mol Genet. 2011 Jan 1;20(1):90-103. doi: 10.1093/hmg/ddq435. Epub 2010 Oct 6. Hum Mol Genet. 2011. PMID: 20926452 Free PMC article.
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.
Lanciotti A, Brignone MS, Visentin S, De Nuccio C, Catacuzzeno L, Mallozzi C, Petrini S, Caramia M, Veroni C, Minnone G, Bernardo A, Franciolini F, Pessia M, Bertini E, Petrucci TC, Ambrosini E. Lanciotti A, et al. Among authors: petrucci tc. Hum Mol Genet. 2016 Apr 15;25(8):1543-58. doi: 10.1093/hmg/ddw032. Epub 2016 Feb 9. Hum Mol Genet. 2016. PMID: 26908604
Phosphorylation and nitration of tyrosine residues affect functional properties of Synaptophysin and Dynamin I, two proteins involved in exo-endocytosis of synaptic vesicles.
Mallozzi C, D'Amore C, Camerini S, Macchia G, Crescenzi M, Petrucci TC, Di Stasi AM. Mallozzi C, et al. Among authors: petrucci tc. Biochim Biophys Acta. 2013 Jan;1833(1):110-21. doi: 10.1016/j.bbamcr.2012.10.022. Epub 2012 Oct 25. Biochim Biophys Acta. 2013. PMID: 23103755 Free article.
84 results