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1.

Gene expression deregulation in postnatal skeletal muscle of TK2 deficient mice reveals a lower pool of proliferating myogenic progenitor cells.

Paredes JA, Zhou X, Höglund S, Karlsson A.

PLoS One. 2013;8(1):e53698. doi: 10.1371/journal.pone.0053698. Epub 2013 Jan 14.

2.

Thymidine kinase 2 deficiency-induced mitochondrial DNA depletion causes abnormal development of adipose tissues and adipokine levels in mice.

Villarroya J, Dorado B, Vilà MR, Garcia-Arumí E, Domingo P, Giralt M, Hirano M, Villarroya F.

PLoS One. 2011;6(12):e29691. doi: 10.1371/journal.pone.0029691. Epub 2011 Dec 27.

3.

Thymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect β-oxidation.

Zhou X, Kannisto K, Curbo S, von Döbeln U, Hultenby K, Isetun S, Gåfvels M, Karlsson A.

PLoS One. 2013;8(3):e58843. doi: 10.1371/journal.pone.0058843. Epub 2013 Mar 7.

4.

Long term expression of Drosophila melanogaster nucleoside kinase in thymidine kinase 2-deficient mice with no lethal effects caused by nucleotide pool imbalances.

Krishnan S, Paredes JA, Zhou X, Kuiper RV, Hultenby K, Curbo S, Karlsson A.

J Biol Chem. 2014 Nov 21;289(47):32835-44. doi: 10.1074/jbc.M114.588921. Epub 2014 Oct 8.

PMID:
25296759
5.
6.

Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.

Dorado B, Area E, Akman HO, Hirano M.

Hum Mol Genet. 2011 Jan 1;20(1):155-64. doi: 10.1093/hmg/ddq453. Epub 2010 Oct 11.

7.

Deoxyribonucleoside kinases in mitochondrial DNA depletion.

Saada-Reisch A.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1205-15. Review.

PMID:
15571232
8.

Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice.

Zhou X, Solaroli N, Bjerke M, Stewart JB, Rozell B, Johansson M, Karlsson A.

Hum Mol Genet. 2008 Aug 1;17(15):2329-35. doi: 10.1093/hmg/ddn133. Epub 2008 Apr 22.

9.

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.

Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):153-61. doi: 10.1016/j.ymgme.2013.07.009. Epub 2013 Jul 17.

PMID:
23932787
10.

Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity.

Villarroya J, Lara MC, Dorado B, Garrido M, García-Arumí E, Meseguer A, Hirano M, Vilà MR.

Biochem Biophys Res Commun. 2011 Apr 8;407(2):333-8. doi: 10.1016/j.bbrc.2011.03.018. Epub 2011 Mar 5.

PMID:
21382338
11.

Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms.

Villarroya J, de Bolós C, Meseguer A, Hirano M, Vilà MR.

Exp Cell Res. 2009 May 1;315(8):1429-38. doi: 10.1016/j.yexcr.2009.02.018. Epub 2009 Mar 3.

PMID:
19265691
12.

Reversion of mtDNA depletion in a patient with TK2 deficiency.

Vilà MR, Segovia-Silvestre T, Gámez J, Marina A, Naini AB, Meseguer A, Lombès A, Bonilla E, DiMauro S, Hirano M, Andreu AL.

Neurology. 2003 Apr 8;60(7):1203-5.

PMID:
12682338
13.

Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome.

Zhou X, Johansson M, Solaroli N, Rozell B, Grandien A, Karlsson A.

J Inherit Metab Dis. 2010 Jun;33(3):231-6. doi: 10.1007/s10545-010-9102-x. Epub 2010 May 4.

PMID:
20440651
14.

Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.

Bartesaghi S, Betts-Henderson J, Cain K, Dinsdale D, Zhou X, Karlsson A, Salomoni P, Nicotera P.

Hum Mol Genet. 2010 May 1;19(9):1669-77. doi: 10.1093/hmg/ddq043. Epub 2010 Feb 1.

15.

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.

Kalko SG, Paco S, Jou C, Rodríguez MA, Meznaric M, Rogac M, Jekovec-Vrhovsek M, Sciacco M, Moggio M, Fagiolari G, De Paepe B, De Meirleir L, Ferrer I, Roig-Quilis M, Munell F, Montoya J, López-Gallardo E, Ruiz-Pesini E, Artuch R, Montero R, Torner F, Nascimento A, Ortez C, Colomer J, Jimenez-Mallebrera C.

BMC Genomics. 2014 Feb 1;15:91. doi: 10.1186/1471-2164-15-91.

16.

A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion.

Leshinsky-Silver E, Michelson M, Cohen S, Ginsberg M, Sadeh M, Barash V, Lerman-Sagie T, Lev D.

Eur J Paediatr Neurol. 2008 Jul;12(4):309-13. Epub 2007 Oct 22.

PMID:
17951082
17.

Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.

Martí R, Nascimento A, Colomer J, Lara MC, López-Gallardo E, Ruiz-Pesini E, Montoya J, Andreu AL, Briones P, Pineda M.

Pediatr Res. 2010 Aug;68(2):151-4. doi: 10.1203/00006450-201011001-00294. Erratum in: Pediatr Res. 2010 Nov;68(5):451.

PMID:
20421844
18.

Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum.

Béhin A, Jardel C, Claeys KG, Fagart J, Louha M, Romero NB, Laforêt P, Eymard B, Lombès A.

Neurology. 2012 Feb 28;78(9):644-8. doi: 10.1212/WNL.0b013e318248df2b. Epub 2012 Feb 15.

PMID:
22345218
19.

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

Akman HO, Dorado B, López LC, García-Cazorla A, Vilà MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K, Hirano M.

Hum Mol Genet. 2008 Aug 15;17(16):2433-40. doi: 10.1093/hmg/ddn143. Epub 2008 May 8.

20.

Loss of LAP2 alpha delays satellite cell differentiation and affects postnatal fiber-type determination.

Gotic I, Schmidt WM, Biadasiewicz K, Leschnik M, Spilka R, Braun J, Stewart CL, Foisner R.

Stem Cells. 2010 Mar 31;28(3):480-8. doi: 10.1002/stem.292.

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