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Page 1
Citrin deficiency, a perplexing global disorder.
Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F, Wong LJ. Dimmock D, et al. Among authors: fiermonte g. Mol Genet Metab. 2009 Jan;96(1):44-9. doi: 10.1016/j.ymgme.2008.10.007. Epub 2008 Nov 25. Mol Genet Metab. 2009. PMID: 19036621
Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.
Lindhurst MJ, Fiermonte G, Song S, Struys E, De Leonardis F, Schwartzberg PL, Chen A, Castegna A, Verhoeven N, Mathews CK, Palmieri F, Biesecker LG. Lindhurst MJ, et al. Among authors: fiermonte g. Proc Natl Acad Sci U S A. 2006 Oct 24;103(43):15927-32. doi: 10.1073/pnas.0607661103. Epub 2006 Oct 11. Proc Natl Acad Sci U S A. 2006. PMID: 17035501 Free PMC article.
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.
MTCH2/MIMP is a major facilitator of tBID recruitment to mitochondria.
Zaltsman Y, Shachnai L, Yivgi-Ohana N, Schwarz M, Maryanovich M, Houtkooper RH, Vaz FM, De Leonardis F, Fiermonte G, Palmieri F, Gillissen B, Daniel PT, Jimenez E, Walsh S, Koehler CM, Roy SS, Walter L, Hajnóczky G, Gross A. Zaltsman Y, et al. Among authors: fiermonte g. Nat Cell Biol. 2010 Jun;12(6):553-562. doi: 10.1038/ncb2057. Epub 2010 May 2. Nat Cell Biol. 2010. PMID: 20436477 Free PMC article.
Mitochondrial metabolite transporters.
Palmieri F, Bisaccia F, Capobianco L, Dolce V, Fiermonte G, Iacobazzi V, Indiveri C, Palmieri L. Palmieri F, et al. Among authors: fiermonte g. Biochim Biophys Acta. 1996 Jul 18;1275(1-2):127-32. doi: 10.1016/0005-2728(96)00062-x. Biochim Biophys Acta. 1996. PMID: 8688445 Free article. Review. No abstract available.
89 results