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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: de nuccio c. 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
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: de nuccio c. 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.
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: de nuccio c. 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
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: de nuccio c. 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.
38 results