Weraarpachai W - Search Results

1

MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation.

Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B, Rehling P. Mick DU, et al. Among authors: weraarpachai w. Cell. 2012 Dec 21;151(7):1528-41. doi: 10.1016/j.cell.2012.11.053. Cell. 2012. PMID: 23260140 Free article.

2

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.

3

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.

4

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

5

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

6

Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.

Straub IR, Weraarpachai W, Shoubridge EA. Straub IR, et al. Among authors: weraarpachai w. Hum Mol Genet. 2021 May 17;30(8):687-705. doi: 10.1093/hmg/ddab078. Hum Mol Genet. 2021. PMID: 33749723 Free PMC article.

7

Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.

Straub IR, Janer A, Weraarpachai W, Zinman L, Robertson J, Rogaeva E, Shoubridge EA. Straub IR, et al. Among authors: weraarpachai w. Hum Mol Genet. 2018 Jan 1;27(1):178-189. doi: 10.1093/hmg/ddx393. Hum Mol Genet. 2018. PMID: 29121267 Free PMC 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

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.

10

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.

La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J; Care4Rare Canada Consortium; Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA. La Piana R, et al. Among authors: weraarpachai w. Neurogenetics. 2017 Apr;18(2):97-103. doi: 10.1007/s10048-016-0506-0. Epub 2017 Jan 5. Neurogenetics. 2017. PMID: 28058511

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