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APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle Trafficking and Neuronal Development.
Piccini A, Castroflorio E, Valente P, Guarnieri FC, Aprile D, Michetti C, Bramini M, Giansante G, Pinto B, Savardi A, Cesca F, Bachi A, Cattaneo A, Wren JD, Fassio A, Valtorta F, Benfenati F, Giovedì S. Piccini A, et al. Among authors: aprile d. Cell Rep. 2017 Dec 19;21(12):3596-3611. doi: 10.1016/j.celrep.2017.11.073. Cell Rep. 2017. PMID: 29262337 Free article.
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
Finelli MJ, Aprile D, Castroflorio E, Jeans A, Moschetta M, Chessum L, Degiacomi MT, Grasegger J, Lupien-Meilleur A, Bassett A, Rossignol E, Campeau PM, Bowl MR, Benfenati F, Fassio A, Oliver PL. Finelli MJ, et al. Among authors: aprile d. Hum Mol Genet. 2019 Feb 15;28(4):584-597. doi: 10.1093/hmg/ddy370. Hum Mol Genet. 2019. PMID: 30335140 Free PMC article.
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R. Esposito A, et al. Among authors: aprile d. Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326. Brain. 2019. PMID: 31688942
41 results