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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Minnerop M, et al. Among authors: carloni p. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Brain. 2017. PMID: 28459997 Free PMC article.
Structure/function relationships of phospholipases C Beta.
Sandal M, Paltrinieri D, Carloni P, Musiani F, Giorgetti A. Sandal M, et al. Among authors: carloni p. Curr Protein Pept Sci. 2013 Dec;14(8):650-7. doi: 10.2174/13892037113146660085. Curr Protein Pept Sci. 2013. PMID: 24384033 Review.
Unifying view of mechanical and functional hotspots across class A GPCRs.
Ponzoni L, Rossetti G, Maggi L, Giorgetti A, Carloni P, Micheletti C. Ponzoni L, et al. Among authors: carloni p. PLoS Comput Biol. 2017 Feb 3;13(2):e1005381. doi: 10.1371/journal.pcbi.1005381. eCollection 2017 Feb. PLoS Comput Biol. 2017. PMID: 28158180 Free PMC article.
314 results