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TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F. Falace A, et al. Among authors: fassio a. Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19. Am J Hum Genet. 2010. PMID: 20727515 Free PMC article.
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, Pozzi D, Messa M, Defranchi E, Fadda M, Corradi A, Baldelli P, Lapointe L, St-Onge J, Meloche C, Mottron L, Valtorta F, Khoa Nguyen D, Rouleau GA, Benfenati F, Cossette P. Fassio A, et al. Hum Mol Genet. 2011 Jun 15;20(12):2297-307. doi: 10.1093/hmg/ddr122. Epub 2011 Mar 25. Hum Mol Genet. 2011. PMID: 21441247
Synapsin I senses membrane curvature by an amphipathic lipid packing sensor motif.
Krabben L, Fassio A, Bhatia VK, Pechstein A, Onofri F, Fadda M, Messa M, Rao Y, Shupliakov O, Stamou D, Benfenati F, Haucke V. Krabben L, et al. Among authors: fassio a. J Neurosci. 2011 Dec 7;31(49):18149-54. doi: 10.1523/JNEUROSCI.4345-11.2011. J Neurosci. 2011. PMID: 22159126 Free PMC article.
202 results