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Items: 1 to 20 of 90

1.

Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA.

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

Drug Discov Today. 2013 Oct;18(19-20):950-7. doi: 10.1016/j.drudis.2013.06.009. Epub 2013 Jun 28. Review.

PMID:
23817075
2.

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.

Elpeleg O, Mandel H, Saada A.

J Mol Med (Berl). 2002 Jul;80(7):389-96. Epub 2002 May 24.

PMID:
12110944
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.

4.

Enzyme kinetics of the mitochondrial deoxyribonucleoside salvage pathway are not sufficient to support rapid mtDNA replication.

Gandhi VV, Samuels DC.

PLoS Comput Biol. 2011 Aug;7(8):e1002078. doi: 10.1371/journal.pcbi.1002078. Epub 2011 Aug 4.

5.

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.

6.

Mitochondrial DNA mutations and depletion in pediatric medicine.

Spinazzola A.

Semin Fetal Neonatal Med. 2011 Aug;16(4):190-6. doi: 10.1016/j.siny.2011.04.011. Epub 2011 Jun 8. Review.

PMID:
21652274
7.

[Mitochondrial disease and mitochondrial DNA depletion syndromes].

Huang CC, Hsu CH.

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

PMID:
20329599
8.

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.

Cohen BH, Naviaux RK.

Methods. 2010 Aug;51(4):364-73. doi: 10.1016/j.ymeth.2010.05.008. Epub 2010 Jun 15. Review.

PMID:
20558295
9.

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A.

Nat Genet. 2007 Jun;39(6):776-80. Epub 2007 May 7.

PMID:
17486094
10.

Mitochondrial DNA depletion syndromes--many genes, common mechanisms.

Suomalainen A, Isohanni P.

Neuromuscul Disord. 2010 Jul;20(7):429-37. doi: 10.1016/j.nmd.2010.03.017. Epub 2010 May 4. Review.

PMID:
20444604
11.

Diseases caused by nuclear genes affecting mtDNA stability.

Suomalainen A, Kaukonen J.

Am J Med Genet. 2001 Spring;106(1):53-61. Review.

PMID:
11579425
12.

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.

13.

Autosomal disorders of mitochondrial DNA maintenance.

Van Goethem G.

Acta Neurol Belg. 2006 Jun;106(2):66-72. Review.

PMID:
16898256
14.

False positive results of mitochondrial DNA depletion/deletion due to single nucleotide substitutions causing appearance of additional PvuII restriction sites.

Weglewska-Jurkiewicz A, Jakóbkiewicz-Banecka J, Pronicka E, Wegrzyn G.

Diagn Mol Pathol. 2007 Jun;16(2):116-20.

PMID:
17525683
15.

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.

Bulst S, Abicht A, Holinski-Feder E, Müller-Ziermann S, Koehler U, Thirion C, Walter MC, Stewart JD, Chinnery PF, Lochmüller H, Horvath R.

Hum Mol Genet. 2009 May 1;18(9):1590-9. doi: 10.1093/hmg/ddp074. Epub 2009 Feb 16.

16.

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H.

Nat Genet. 2013 Feb;45(2):214-9. doi: 10.1038/ng.2501. Epub 2013 Jan 13.

17.

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A.

Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. Epub 2008 Sep 5.

18.

Genetic causes of mitochondrial DNA depletion in humans.

Rötig A, Poulton J.

Biochim Biophys Acta. 2009 Dec;1792(12):1103-8. doi: 10.1016/j.bbadis.2009.06.009. Epub 2009 Jul 9. Review.

19.

Deoxynucleoside salvage enzymes and tissue specific mitochondrial DNA depletion.

Wang L.

Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):370-81. doi: 10.1080/15257771003729732.

PMID:
20544522
20.

Infantile-onset disorders of mitochondrial replication and protein synthesis.

Nogueira C, Carrozzo R, Vilarinho L, Santorelli FM.

J Child Neurol. 2011 Jul;26(7):866-75. doi: 10.1177/0883073811402072. Epub 2011 May 13. Review.

PMID:
21572058
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