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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: ambrosini e. Sci Rep. 2016 Sep 28;6:34325. doi: 10.1038/srep34325. Sci Rep. 2016. PMID: 27677466 Free PMC article.
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: ambrosini e. 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 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: ambrosini e. 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: ambrosini e. 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: ambrosini e. 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. Among authors: ambrosini e. 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. 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.
MLC1 protein: a likely link between leukodystrophies and brain channelopathies.
Brignone MS, Lanciotti A, Camerini S, De Nuccio C, Petrucci TC, Visentin S, Ambrosini E. Brignone MS, et al. Among authors: ambrosini e. Front Cell Neurosci. 2015 Apr 1;9:66. doi: 10.3389/fncel.2015.00106. eCollection 2015. Front Cell Neurosci. 2015. PMID: 25883547 Free PMC article. Review.
206 results