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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: de fusco a. Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326. Brain. 2019. PMID: 31688942
Autoantibodies to synapsin I sequestrate synapsin I and alter synaptic function.
Rocchi A, Sacchetti S, De Fusco A, Giovedi S, Parisi B, Cesca F, Höltje M, Ruprecht K, Ahnert-Hilger G, Benfenati F. Rocchi A, et al. Among authors: de fusco a. Cell Death Dis. 2019 Nov 14;10(11):864. doi: 10.1038/s41419-019-2106-z. Cell Death Dis. 2019. PMID: 31727880 Free PMC article.
The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na+ channels.
Franchi F, Marte A, Corradi B, Sterlini B, Alberini G, Romei A, De Fusco A, Vogel A, Maragliano L, Baldelli P, Corradi A, Valente P, Benfenati F. Franchi F, et al. Among authors: de fusco a. J Biol Chem. 2023 May;299(5):104632. doi: 10.1016/j.jbc.2023.104632. Epub 2023 Mar 22. J Biol Chem. 2023. PMID: 36958475 Free PMC article.
29 results