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Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli BK, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, Freisinger P, Geis T, Gropman AL, Häberle J, Hentschel J, Jeandidier B, Karall D, Keren B, Klabunde-Cherwon A, Konstantopoulou V, Kottke R, Lasorsa FM, Makowski C, Mignot C, O'Gorman Tuura R, Porcelli V, Santer R, Sen K, Steinbrücker K, Syrbe S, Wagner M, Ziegler A, Zöggeler T, Mayr JA, Prokisch H, Wortmann SB. Bölsterli BK, et al. Among authors: porcelli v. Nutrients. 2022 Aug 31;14(17):3605. doi: 10.3390/nu14173605. Nutrients. 2022. PMID: 36079864 Free PMC article.
A Mutation in the Mitochondrial Aspartate/Glutamate Carrier Leads to a More Oxidizing Intramitochondrial Environment and an Inflammatory Myopathy in Dutch Shepherd Dogs.
Shelton GD, Minor KM, Li K, Naviaux JC, Monk J, Wang L, Guzik E, Guo LT, Porcelli V, Gorgoglione R, Lasorsa FM, Leegwater PJ, Persico AM, Mickelson JR, Palmieri L, Naviaux RK. Shelton GD, et al. Among authors: porcelli v. J Neuromuscul Dis. 2019;6(4):485-501. doi: 10.3233/JND-190421. J Neuromuscul Dis. 2019. PMID: 31594244 Free PMC article.
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F, Lunetti P, Curcio R, Lasorsa FM, Capobianco L, Porcelli V, Dolce V, Fiermonte G, Scarcia P. Marra F, et al. Among authors: porcelli v. Biomolecules. 2021 Nov 4;11(11):1633. doi: 10.3390/biom11111633. Biomolecules. 2021. PMID: 34827632 Free PMC article. Review.
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.
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.
31 results