| Year |
Citation |
Score |
| 2021 |
Straub IR, Weraarpachai W, Shoubridge EA. Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses. Human Molecular Genetics. 30: 687-705. PMID 33749723 DOI: 10.1093/hmg/ddab078 |
0.684 |
|
| 2020 |
Antonicka H, Lin ZY, Janer A, Aaltonen MJ, Weraarpachai W, Gingras AC, Shoubridge EA. A High-Density Human Mitochondrial Proximity Interaction Network. Cell Metabolism. 32: 479-497.e9. PMID 32877691 DOI: 10.1016/J.Cmet.2020.07.017 |
0.666 |
|
| 2017 |
Straub IR, Janer A, Weraarpachai W, Zinman L, Robertson J, Rogaeva E, Shoubridge EA. Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS. Human Molecular Genetics. PMID 29121267 DOI: 10.1093/Hmg/Ddx393 |
0.707 |
|
| 2017 |
Mitsopoulos P, Lapohos O, Weraarpachai W, Antonicka H, Chang YH, Madrenas J. Stomatin-like protein 2 deficiency results in impaired mitochondrial translation. Plos One. 12: e0179967. PMID 28654702 DOI: 10.1371/journal.pone.0179967 |
0.552 |
|
| 2017 |
La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J, Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA. Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype. Neurogenetics. PMID 28058511 DOI: 10.1007/S10048-016-0506-0 |
0.729 |
|
| 2015 |
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. The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1. Human Molecular Genetics. 24: 2841-7. PMID 25652405 DOI: 10.1093/Hmg/Ddv044 |
0.776 |
|
| 2015 |
Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jønson L, Duno M, Wibrand F, Shoubridge EA, Vissing J. Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. Journal of Medical Genetics. 52: 203-7. PMID 25604084 DOI: 10.1136/Jmedgenet-2014-102914 |
0.569 |
|
| 2015 |
Sasarman F, Nishimura T, Antonicka H, Weraarpachai W, Shoubridge EA, Allen B, Burelle Y, Charron G, Coderre L, DesRosiers C, Laprise C, Morin C, Rioux J. Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome Human Molecular Genetics. 24: 480-491. PMID 25214534 DOI: 10.1093/Hmg/Ddu468 |
0.745 |
|
| 2013 |
Leary SC, Antonicka H, Sasarman F, Weraarpachai W, Cobine PA, Pan M, Brown GK, Brown R, Majewski J, Ha KC, Rahman S, Shoubridge EA. Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis. Human Mutation. 34: 1366-70. PMID 23878101 DOI: 10.1002/Humu.22385 |
0.711 |
|
| 2012 |
Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B, Rehling P. MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. Cell. 151: 1528-41. PMID 23260140 DOI: 10.1016/J.Cell.2012.11.053 |
0.75 |
|
| 2012 |
Weraarpachai W, Sasarman F, Nishimura T, Antonicka H, Auré K, Rötig A, Lombès A, Shoubridge EA. Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis. American Journal of Human Genetics. 90: 142-51. PMID 22243966 DOI: 10.1016/J.Ajhg.2011.11.027 |
0.753 |
|
| 2011 |
Smits P, Antonicka H, van Hasselt PM, Weraarpachai W, Haller W, Schreurs M, Venselaar H, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. European Journal of Human Genetics : Ejhg. 19: 275-9. PMID 21119709 DOI: 10.1038/Ejhg.2010.208 |
0.672 |
|
| 2010 |
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. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. American Journal of Human Genetics. 87: 115-22. PMID 20598281 DOI: 10.1016/J.Ajhg.2010.06.004 |
0.781 |
|
| 2009 |
Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmüller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA. Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nature Genetics. 41: 833-7. PMID 19503089 DOI: 10.1038/Ng.390 |
0.775 |
|
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