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Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R. Torraco A, et al. Among authors: fiermonte g. J Neurol. 2017 Jan;264(1):102-111. doi: 10.1007/s00415-016-8312-z. Epub 2016 Oct 26. J Neurol. 2017. PMID: 27785568
Identification and functions of new transporters in yeast mitochondria.
Palmieri L, Lasorsa FM, Vozza A, Agrimi G, Fiermonte G, Runswick MJ, Walker JE, Palmieri F. Palmieri L, et al. Among authors: fiermonte g. Biochim Biophys Acta. 2000 Aug 15;1459(2-3):363-9. doi: 10.1016/s0005-2728(00)00173-0. Biochim Biophys Acta. 2000. PMID: 11004452 Free article. Review.
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarría L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM. Tessa A, et al. Among authors: fiermonte g. Hum Mutat. 2009 May;30(5):741-8. doi: 10.1002/humu.20930. Hum Mutat. 2009. PMID: 19242930
UCP2 transports C4 metabolites out of mitochondria, regulating glucose and glutamine oxidation.
Vozza A, Parisi G, De Leonardis F, Lasorsa FM, Castegna A, Amorese D, Marmo R, Calcagnile VM, Palmieri L, Ricquier D, Paradies E, Scarcia P, Palmieri F, Bouillaud F, Fiermonte G. Vozza A, et al. Among authors: fiermonte g. Proc Natl Acad Sci U S A. 2014 Jan 21;111(3):960-5. doi: 10.1073/pnas.1317400111. Epub 2014 Jan 6. Proc Natl Acad Sci U S A. 2014. PMID: 24395786 Free PMC article.
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2.
Carrozzo R, Torraco A, Fiermonte G, Martinelli D, Di Nottia M, Rizza T, Vozza A, Verrigni D, Diodato D, Parisi G, Maiorana A, Rizzo C, Pierri CL, Zucano S, Piemonte F, Bertini E, Dionisi-Vici C. Carrozzo R, et al. Among authors: fiermonte g. Mitochondrion. 2014 Sep;18:49-57. doi: 10.1016/j.mito.2014.09.006. Epub 2014 Sep 22. Mitochondrion. 2014. PMID: 25251739
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. Martinelli D, et al. Among authors: fiermonte g. Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Orphanet J Rare Dis. 2015. PMID: 25874378 Free PMC article. Review.
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