Bonilla E - Search Results

1

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: bonilla e. 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.

2

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.

López LC, Akman HO, García-Cazorla A, Dorado B, Martí R, Nishino I, Tadesse S, Pizzorno G, Shungu D, Bonilla E, Tanji K, Hirano M. López LC, et al. Among authors: bonilla e. Hum Mol Genet. 2009 Feb 15;18(4):714-22. doi: 10.1093/hmg/ddn401. Epub 2008 Nov 21. Hum Mol Genet. 2009. PMID: 19028666 Free PMC article.

3

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.

Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, Sue C, Krishna S, Carlo JR, Willner J, Schon EA, DiMauro S. Shanske S, et al. Among authors: bonilla e. Am J Hum Genet. 2002 Sep;71(3):679-83. doi: 10.1086/342482. Epub 2002 Jul 31. Am J Hum Genet. 2002. PMID: 12152148 Free PMC article.

4

Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.

Pancrudo J, Shanske S, Bonilla E, Daras M, Akman HO, Krishna S, Malkin E, DiMauro S. Pancrudo J, et al. Among authors: bonilla e. J Child Neurol. 2007 Jul;22(7):858-62. doi: 10.1177/0883073807304199. J Child Neurol. 2007. PMID: 17715279

5

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.

Shanske S, Coku J, Lu J, Ganesh J, Krishna S, Tanji K, Bonilla E, Naini AB, Hirano M, DiMauro S. Shanske S, et al. Among authors: bonilla e. Arch Neurol. 2008 Mar;65(3):368-72. doi: 10.1001/archneurol.2007.67. Arch Neurol. 2008. PMID: 18332249

6

Light microscopic methods to visualize mitochondria on tissue sections.

Tanji K, Bonilla E. Tanji K, et al. Among authors: bonilla e. Methods. 2008 Dec;46(4):274-80. doi: 10.1016/j.ymeth.2008.09.027. Epub 2008 Oct 16. Methods. 2008. PMID: 18929660 Review.

7

Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease.

Brosel S, Yang H, Tanji K, Bonilla E, Schon EA. Brosel S, et al. Among authors: bonilla e. Am J Pathol. 2010 Nov;177(5):2541-8. doi: 10.2353/ajpath.2010.100229. Epub 2010 Sep 23. Am J Pathol. 2010. PMID: 20864674 Free PMC article.

8

Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects.

DiMauro S, Tanji K, Bonilla E, Pallotti F, Schon EA. DiMauro S, et al. Among authors: bonilla e. Muscle Nerve. 2002 Nov;26(5):597-607. doi: 10.1002/mus.10194. Muscle Nerve. 2002. PMID: 12402281 Review.

9

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.

Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S. Mancuso M, et al. Among authors: bonilla e. Arch Neurol. 2003 Jul;60(7):1007-9. doi: 10.1001/archneur.60.7.1007. Arch Neurol. 2003. PMID: 12873860

10

Mitochondrial DNA dysfunction in oncocytic hepatocytes.

Tanji K, Bhagat G, Vu TH, Monzon L, Bonilla E, Lefkowitch JH. Tanji K, et al. Among authors: bonilla e. Liver Int. 2003 Oct;23(5):397-403. doi: 10.1034/j.1478-3231.2003.00864.x. Liver Int. 2003. PMID: 14708902

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