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SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P, Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V, Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F, De Grassi A. Punzi G, et al. Among authors: porcelli v. Hum Mol Genet. 2018 Feb 1;27(3):499-504. doi: 10.1093/hmg/ddx419. Hum Mol Genet. 2018. PMID: 29211846 Free PMC article.
Effect of diazoxide on Friedreich ataxia models.
Santoro A, Anjomani Virmouni S, Paradies E, Villalobos Coa VL, Al-Mahdawi S, Khoo M, Porcelli V, Vozza A, Perrone M, Denora N, Taroni F, Merla G, Palmieri L, Pook MA, Marobbio CMT. Santoro A, et al. Among authors: porcelli v. Hum Mol Genet. 2018 Mar 15;27(6):992-1001. doi: 10.1093/hmg/ddy016. Hum Mol Genet. 2018. PMID: 29325032
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H. Chaouch A, et al. Among authors: porcelli v. J Neuromuscul Dis. 2014;1(1):75-90. doi: 10.3233/JND-140021. J Neuromuscul Dis. 2014. PMID: 26870663 Free PMC article.
Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells.
Profilo E, Peña-Altamira LE, Corricelli M, Castegna A, Danese A, Agrimi G, Petralla S, Giannuzzi G, Porcelli V, Sbano L, Viscomi C, Massenzio F, Palmieri EM, Giorgi C, Fiermonte G, Virgili M, Palmieri L, Zeviani M, Pinton P, Monti B, Palmieri F, Lasorsa FM. Profilo E, et al. Among authors: porcelli v. Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1422-1435. doi: 10.1016/j.bbadis.2017.02.022. Epub 2017 Feb 21. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28235644 Free article.
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
Pop A, Williams M, Struys EA, Monné M, Jansen EEW, De Grassi A, Kanhai WA, Scarcia P, Ojeda MRF, Porcelli V, van Dooren SJM, Lennertz P, Nota B, Abdenur JE, Coman D, Das AM, El-Gharbawy A, Nuoffer JM, Polic B, Santer R, Weinhold N, Zuccarelli B, Palmieri F, Palmieri L, Salomons GS. Pop A, et al. Among authors: porcelli v. J Inherit Metab Dis. 2018 Mar;41(2):169-180. doi: 10.1007/s10545-017-0106-7. Epub 2017 Dec 13. J Inherit Metab Dis. 2018. PMID: 29238895 Free PMC article.
The human uncoupling proteins 5 and 6 (UCP5/SLC25A14 and UCP6/SLC25A30) transport sulfur oxyanions, phosphate and dicarboxylates.
Gorgoglione R, Porcelli V, Santoro A, Daddabbo L, Vozza A, Monné M, Di Noia MA, Palmieri L, Fiermonte G, Palmieri F. Gorgoglione R, et al. Among authors: porcelli v. Biochim Biophys Acta Bioenerg. 2019 Sep 1;1860(9):724-733. doi: 10.1016/j.bbabio.2019.07.010. Epub 2019 Jul 26. Biochim Biophys Acta Bioenerg. 2019. PMID: 31356773 Free article.
31 results