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Items: 1 to 20 of 123

1.

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

González-Vioque E, Torres-Torronteras J, Andreu AL, Martí R.

PLoS Genet. 2011 Mar;7(3):e1002035. doi: 10.1371/journal.pgen.1002035. Epub 2011 Mar 31.

2.

Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA.

Song S, Wheeler LJ, Mathews CK.

J Biol Chem. 2003 Nov 7;278(45):43893-6. Epub 2003 Sep 17.

3.

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.

Cámara Y, González-Vioque E, Scarpelli M, Torres-Torronteras J, Caballero A, Hirano M, Martí R.

Hum Mol Genet. 2014 May 1;23(9):2459-67. doi: 10.1093/hmg/ddt641. Epub 2013 Dec 20.

PMID:
24362886
4.

Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Ferraro P, Pontarin G, Crocco L, Fabris S, Reichard P, Bianchi V.

J Biol Chem. 2005 Jul 1;280(26):24472-80. Epub 2005 May 5.

5.

Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy.

Pontarin G, Ferraro P, Valentino ML, Hirano M, Reichard P, Bianchi V.

J Biol Chem. 2006 Aug 11;281(32):22720-8. Epub 2006 Jun 13.

6.
7.

Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.

Marti R, Spinazzola A, Nishino I, Andreu AL, Naini A, Tadesse S, Oliver JA, Hirano M.

Mitochondrion. 2002 Nov;2(1-2):143-7.

PMID:
16120316
8.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

Hirano M, Nishigaki Y, Martí R.

Neurologist. 2004 Jan;10(1):8-17. Review.

PMID:
14720311
9.

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

Torres-Torronteras J, Viscomi C, Cabrera-Pérez R, Cámara Y, Di Meo I, Barquinero J, Auricchio A, Pizzorno G, Hirano M, Zeviani M, Martí R.

Mol Ther. 2014 May;22(5):901-7. doi: 10.1038/mt.2014.6. Epub 2014 Jan 22.

10.

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.

Dalla Rosa I, Cámara Y, Durigon R, Moss CF, Vidoni S, Akman G, Hunt L, Johnson MA, Grocott S, Wang L, Thorburn DR, Hirano M, Poulton J, Taylor RW, Elgar G, Martí R, Voshol P, Holt IJ, Spinazzola A.

PLoS Genet. 2016 Jan 13;12(1):e1005779. doi: 10.1371/journal.pgen.1005779. eCollection 2016 Jan.

11.

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.

Ashley N, Adams S, Slama A, Zeviani M, Suomalainen A, Andreu AL, Naviaux RK, Poulton J.

Hum Mol Genet. 2007 Jun 15;16(12):1400-11. Epub 2007 May 3.

PMID:
17483096
12.

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.

Nishigaki Y, Marti R, Hirano M.

Hum Mol Genet. 2004 Jan 1;13(1):91-101. Epub 2003 Nov 12.

PMID:
14613972
13.

Evaluation of gastrointestinal mtDNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Giordano C, d'Amati G.

Methods Mol Biol. 2011;755:223-32. doi: 10.1007/978-1-61779-163-5_18.

PMID:
21761307
14.

Thymidine phosphorylase mutations cause instability of mitochondrial DNA.

Hirano M, Lagier-Tourenne C, Valentino ML, Martí R, Nishigaki Y.

Gene. 2005 Jul 18;354:152-6.

PMID:
15975738
15.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.

Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Martí R.

Biosci Rep. 2007 Jun;27(1-3):151-63. Review.

PMID:
17549623
16.

Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency.

Saada A.

Mol Genet Metab. 2008 Nov;95(3):169-73. doi: 10.1016/j.ymgme.2008.07.007. Epub 2008 Aug 23.

PMID:
18723380
17.

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.

Nishigaki Y, Martí R, Copeland WC, Hirano M.

J Clin Invest. 2003 Jun;111(12):1913-21.

18.

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A.

Am J Hum Genet. 2005 Jun;76(6):1081-6. Epub 2005 Apr 22.

19.

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.

Giordano C, Sebastiani M, Plazzi G, Travaglini C, Sale P, Pinti M, Tancredi A, Liguori R, Montagna P, Bellan M, Valentino ML, Cossarizza A, Hirano M, d'Amati G, Carelli V.

Gastroenterology. 2006 Mar;130(3):893-901.

PMID:
16530527
20.

[Mitochondrial disease and mitochondrial DNA depletion syndromes].

Huang CC, Hsu CH.

Acta Neurol Taiwan. 2009 Dec;18(4):287-95. Review. Chinese.

PMID:
20329599

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