Vila MR - Search Results

1

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.

Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S. Wang L, et al. Among authors: vila mr. Mol Genet Metab. 2005 Jan;84(1):75-82. doi: 10.1016/j.ymgme.2004.09.005. Mol Genet Metab. 2005. PMID: 15639197

2

Altered expression of master regulatory genes of adipogenesis in lipomas from patients bearing tRNA(Lys) point mutations in mitochondrial DNA.

Guallar JP, Vilà MR, López-Gallardo E, Solano A, Domingo JC, Gámez J, Pineda M, Capablo JL, Domingo P, Andreu AL, Montoya J, Giralt M, Villarroya F. Guallar JP, et al. Among authors: vila mr. Mol Genet Metab. 2006 Nov;89(3):283-5. doi: 10.1016/j.ymgme.2006.03.001. Epub 2006 Apr 17. Mol Genet Metab. 2006. PMID: 16603396

3

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. Akman HO, et al. Among authors: vila mr. Hum Mol Genet. 2008 Aug 15;17(16):2433-40. doi: 10.1093/hmg/ddn143. Epub 2008 May 8. Hum Mol Genet. 2008. PMID: 18467430 Free PMC article.

4

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. Villarroya J, et al. Among authors: vila mr. PLoS One. 2011;6(12):e29691. doi: 10.1371/journal.pone.0029691. Epub 2011 Dec 27. PLoS One. 2011. PMID: 22216345 Free PMC article.

5

Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency.

Vilà MR, Villarroya J, García-Arumí E, Castellote A, Meseguer A, Hirano M, Roig M. Vilà MR, et al. J Neurol Sci. 2008 Apr 15;267(1-2):137-41. doi: 10.1016/j.jns.2007.10.019. Epub 2007 Nov 19. J Neurol Sci. 2008. PMID: 18021809 Free PMC article.

6

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. Villarroya J, et al. Among authors: vila mr. Exp Cell Res. 2009 May 1;315(8):1429-38. doi: 10.1016/j.yexcr.2009.02.018. Epub 2009 Mar 3. Exp Cell Res. 2009. PMID: 19265691 Free PMC article.

7

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. Villarroya J, et al. Among authors: vila mr. Biochem Biophys Res Commun. 2011 Apr 8;407(2):333-8. doi: 10.1016/j.bbrc.2011.03.018. Epub 2011 Mar 5. Biochem Biophys Res Commun. 2011. PMID: 21382338 Free PMC article.

8

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.

Filosto M, Mancuso M, Vives-Bauza C, Vilà MR, Shanske S, Hirano M, Andreu AL, DiMauro S. Filosto M, et al. Among authors: vila mr. Ann Neurol. 2003 Oct;54(4):524-6. doi: 10.1002/ana.10709. Ann Neurol. 2003. PMID: 14520667

9

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. Vilà MR, et al. Neurology. 2003 Apr 8;60(7):1203-5. doi: 10.1212/01.wnl.0000055928.58122.47. Neurology. 2003. PMID: 12682338

10

Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders.

Martí R, Nishigaki Y, Vilá MR, Hirano M. Martí R, et al. Among authors: vila mr. Clin Chem Lab Med. 2003 Jul;41(7):845-51. doi: 10.1515/CCLM.2003.128. Clin Chem Lab Med. 2003. PMID: 12940507 Review.

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