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Page 1
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: brignone ms. 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
Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.
Petrini S, Minnone G, Coccetti M, Frank C, Aiello C, Cutarelli A, Ambrosini E, Lanciotti A, Brignone MS, D'Oria V, Strippoli R, De Benedetti F, Bertini E, Bracci-Laudiero L. Petrini S, et al. Among authors: brignone ms. Mol Cell Neurosci. 2013 Sep;56:307-21. doi: 10.1016/j.mcn.2013.07.001. Epub 2013 Jul 10. Mol Cell Neurosci. 2013. PMID: 23851226
ASTROCYTES: EMERGING STARS IN LEUKODYSTROPHY PATHOGENESIS.
Lanciotti A, Brignone MS, Bertini E, Petrucci TC, Aloisi F, Ambrosini E. Lanciotti A, et al. Among authors: brignone ms. Transl Neurosci. 2013 Jun 1;4(2):10.2478/s13380-013-0118-1. doi: 10.2478/s13380-013-0118-1. Transl Neurosci. 2013. PMID: 24340223 Free PMC article.
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis.
Brignone MS, Lanciotti A, Visentin S, De Nuccio C, Molinari P, Camerini S, Diociaiuti M, Petrini S, Minnone G, Crescenzi M, Laudiero LB, Bertini E, Petrucci TC, Ambrosini E. Brignone MS, et al. Neurobiol Dis. 2014 Jun;66(100):1-18. doi: 10.1016/j.nbd.2014.02.003. Epub 2014 Feb 19. Neurobiol Dis. 2014. PMID: 24561067 Free PMC article.
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.
Ambrosini E, Sicca F, Brignone MS, D'Adamo MC, Napolitano C, Servettini I, Moro F, Ruan Y, Guglielmi L, Pieroni S, Servillo G, Lanciotti A, Valvo G, Catacuzzeno L, Franciolini F, Molinari P, Marchese M, Grottesi A, Guerrini R, Santorelli FM, Priori S, Pessia M. Ambrosini E, et al. Among authors: brignone ms. Hum Mol Genet. 2014 Sep 15;23(18):4875-86. doi: 10.1093/hmg/ddu201. Epub 2014 May 2. Hum Mol Genet. 2014. PMID: 24794859 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: brignone ms. 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
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.
Sicca F, Ambrosini E, Marchese M, Sforna L, Servettini I, Valvo G, Brignone MS, Lanciotti A, Moro F, Grottesi A, Catacuzzeno L, Baldini S, Hasan S, D'Adamo MC, Franciolini F, Molinari P, Santorelli FM, Pessia M. Sicca F, et al. Among authors: brignone ms. Sci Rep. 2016 Sep 28;6:34325. doi: 10.1038/srep34325. Sci Rep. 2016. PMID: 27677466 Free PMC article.
21 results