Weraarpachai W - Search Results

1

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.

Smits P, Antonicka H, van Hasselt PM, Weraarpachai W, Haller W, Schreurs M, Venselaar H, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Smits P, et al. Among authors: weraarpachai w. Eur J Hum Genet. 2011 Mar;19(3):275-9. doi: 10.1038/ejhg.2010.208. Epub 2010 Dec 1. Eur J Hum Genet. 2011. PMID: 21119709 Free PMC article.

2

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: weraarpachai w. 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.

3

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.

Sasarman F, Nishimura T, Antonicka H, Weraarpachai W, Shoubridge EA; LSFC Consortium. Sasarman F, et al. Among authors: weraarpachai w. Hum Mol Genet. 2015 Jan 15;24(2):480-91. doi: 10.1093/hmg/ddu468. Epub 2014 Sep 11. Hum Mol Genet. 2015. PMID: 25214534 Free PMC article.

4

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA. Sasarman F, et al. Among authors: weraarpachai w. Hum Mol Genet. 2015 May 15;24(10):2841-7. doi: 10.1093/hmg/ddv044. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652405 Free PMC article.

5

Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.

Weraarpachai W, Sasarman F, Nishimura T, Antonicka H, Auré K, Rötig A, Lombès A, Shoubridge EA. Weraarpachai W, et al. Am J Hum Genet. 2012 Jan 13;90(1):142-51. doi: 10.1016/j.ajhg.2011.11.027. Am J Hum Genet. 2012. PMID: 22243966 Free PMC article.

6

Stomatin-like protein 2 deficiency results in impaired mitochondrial translation.

Mitsopoulos P, Lapohos O, Weraarpachai W, Antonicka H, Chang YH, Madrenas J. Mitsopoulos P, et al. Among authors: weraarpachai w. PLoS One. 2017 Jun 27;12(6):e0179967. doi: 10.1371/journal.pone.0179967. eCollection 2017. PLoS One. 2017. PMID: 28654702 Free PMC article.

7

A High-Density Human Mitochondrial Proximity Interaction Network.

Antonicka H, Lin ZY, Janer A, Aaltonen MJ, Weraarpachai W, Gingras AC, Shoubridge EA. Antonicka H, et al. Among authors: weraarpachai w. Cell Metab. 2020 Sep 1;32(3):479-497.e9. doi: 10.1016/j.cmet.2020.07.017. Cell Metab. 2020. PMID: 32877691 Free article.

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. Nat Genet. 2009 Jul;41(7):833-7. doi: 10.1038/ng.390. Epub 2009 Jun 7. Nat Genet. 2009. PMID: 19503089

9

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

Leary SC, Antonicka H, Sasarman F, Weraarpachai W, Cobine PA, Pan M, Brown GK, Brown R, Majewski J, Ha KC, Rahman S, Shoubridge EA. Leary SC, et al. Among authors: weraarpachai w. Hum Mutat. 2013 Oct;34(10):1366-70. doi: 10.1002/humu.22385. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23878101

10

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jønson L, Duno M, Wibrand F, Shoubridge EA, Vissing J. Ostergaard E, et al. Among authors: weraarpachai w. J Med Genet. 2015 Mar;52(3):203-7. doi: 10.1136/jmedgenet-2014-102914. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604084

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

14 results

Search Page

Filters