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Page 1
Novel FAM126A mutations in hypomyelination and congenital cataract disease.
Traverso M, Assereto S, Gazzerro E, Savasta S, Abdalla EM, Rossi A, Baldassari S, Fruscione F, Ruffinazzi G, Fassad MR, El Beheiry A, Minetti C, Zara F, Biancheri R. Traverso M, et al. Among authors: fruscione f. Biochem Biophys Res Commun. 2013 Sep 27;439(3):369-72. doi: 10.1016/j.bbrc.2013.08.077. Epub 2013 Aug 30. Biochem Biophys Res Commun. 2013. PMID: 23998934
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.
Gazzerro E, Baldassari S, Giacomini C, Musante V, Fruscione F, La Padula V, Biancheri R, Scarfì S, Prada V, Sotgia F, Duncan ID, Zara F, Werner HB, Lisanti MP, Nobbio L, Corradi A, Minetti C. Gazzerro E, et al. Among authors: fruscione f. PLoS One. 2012;7(3):e32180. doi: 10.1371/journal.pone.0032180. Epub 2012 Mar 26. PLoS One. 2012. PMID: 22461884 Free PMC article.
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
Vanni N, Fruscione F, Ferlazzo E, Striano P, Robbiano A, Traverso M, Sander T, Falace A, Gazzerro E, Bramanti P, Bielawski J, Fassio A, Minetti C, Genton P, Zara F. Vanni N, et al. Among authors: fruscione f. Ann Neurol. 2014 Aug;76(2):206-12. doi: 10.1002/ana.24170. Epub 2014 May 20. Ann Neurol. 2014. PMID: 24782409
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis.
Gazzerro E, Baldassari S, Assereto S, Fruscione F, Pistorio A, Panicucci C, Volpi S, Perruzza L, Fiorillo C, Minetti C, Traggiai E, Grassi F, Bruno C. Gazzerro E, et al. Among authors: fruscione f. Am J Pathol. 2015 Dec;185(12):3349-60. doi: 10.1016/j.ajpath.2015.08.010. Epub 2015 Oct 24. Am J Pathol. 2015. PMID: 26465071 Free article.
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
Fruscione F, Valente P, Sterlini B, Romei A, Baldassari S, Fadda M, Prestigio C, Giansante G, Sartorelli J, Rossi P, Rubio A, Gambardella A, Nieus T, Broccoli V, Fassio A, Baldelli P, Corradi A, Zara F, Benfenati F. Fruscione F, et al. Brain. 2018 Apr 1;141(4):1000-1016. doi: 10.1093/brain/awy051. Brain. 2018. PMID: 29554219 Free PMC article.
53 results