Shoubridge EA - Search Results

1

Author Correction: A proximity-dependent biotinylation map of a human cell.

Go CD, Knight JDR, Rajasekharan A, Rathod B, Hesketh GG, Abe KT, Youn JY, Samavarchi-Tehrani P, Zhang H, Zhu LY, Popiel E, Lambert JP, Coyaud É, Cheung SWT, Rajendran D, Wong CJ, Antonicka H, Pelletier L, Palazzo AF, Shoubridge EA, Raught B, Gingras AC. Go CD, et al. Among authors: shoubridge ea. Nature. 2022 Feb;602(7895):E16. doi: 10.1038/s41586-021-04308-2. Nature. 2022. PMID: 35017685 No abstract available.

2

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA. Antonicka H, et al. Among authors: shoubridge ea. Am J Hum Genet. 2003 Jan;72(1):101-14. doi: 10.1086/345489. Epub 2002 Dec 9. Am J Hum Genet. 2003. PMID: 12474143 Free PMC article.

3

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA. Antonicka H, et al. Among authors: shoubridge ea. Hum Mol Genet. 2003 Oct 15;12(20):2693-702. doi: 10.1093/hmg/ddg284. Epub 2003 Aug 19. Hum Mol Genet. 2003. PMID: 12928484

4

Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency.

Antonicka H, Ogilvie I, Taivassalo T, Anitori RP, Haller RG, Vissing J, Kennaway NG, Shoubridge EA. Antonicka H, et al. Among authors: shoubridge ea. J Biol Chem. 2003 Oct 31;278(44):43081-8. doi: 10.1074/jbc.M304998200. Epub 2003 Aug 26. J Biol Chem. 2003. PMID: 12941961 Free article.

5

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS. Lerner-Ellis JP, et al. Among authors: shoubridge ea. Nat Genet. 2006 Jan;38(1):93-100. doi: 10.1038/ng1683. Epub 2005 Nov 27. Nat Genet. 2006. PMID: 16311595

6

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.

Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA. Antonicka H, et al. Among authors: shoubridge ea. Hum Mol Genet. 2006 Jun 1;15(11):1835-46. doi: 10.1093/hmg/ddl106. Epub 2006 Apr 21. Hum Mol Genet. 2006. PMID: 16632485

7

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.

Sasarman F, Antonicka H, Shoubridge EA. Sasarman F, et al. Among authors: shoubridge ea. Hum Mol Genet. 2008 Dec 1;17(23):3697-707. doi: 10.1093/hmg/ddn265. Epub 2008 Aug 27. Hum Mol Genet. 2008. PMID: 18753147

8

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmüller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA. Weraarpachai W, et al. Among authors: shoubridge ea. Nat Genet. 2009 Jul;41(7):833-7. doi: 10.1038/ng.390. Epub 2009 Jun 7. Nat Genet. 2009. PMID: 19503089

9

LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.

Sasarman F, Brunel-Guitton C, Antonicka H, Wai T, Shoubridge EA; LSFC Consortium. Sasarman F, et al. Among authors: shoubridge ea. Mol Biol Cell. 2010 Apr 15;21(8):1315-23. doi: 10.1091/mbc.e10-01-0047. Epub 2010 Mar 3. Mol Biol Cell. 2010. PMID: 20200222 Free PMC article.

10

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.

Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, Shoubridge EA. Antonicka H, et al. Among authors: shoubridge ea. Am J Hum Genet. 2010 Jul 9;87(1):115-22. doi: 10.1016/j.ajhg.2010.06.004. Am J Hum Genet. 2010. PMID: 20598281 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

184 results

Search Page