Rouault TA - Search Results

1

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, Compton AG. Lim SC, et al. Among authors: rouault ta. Hum Mol Genet. 2013 Nov 15;22(22):4460-73. doi: 10.1093/hmg/ddt295. Epub 2013 Jun 28. Hum Mol Genet. 2013. PMID: 23814038 Free PMC article.

2

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.

Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. Mochel F, et al. Among authors: rouault ta. Am J Hum Genet. 2008 Mar;82(3):652-60. doi: 10.1016/j.ajhg.2007.12.012. Epub 2008 Feb 14. Am J Hum Genet. 2008. PMID: 18304497 Free PMC article.

3

Human ISD11 is essential for both iron-sulfur cluster assembly and maintenance of normal cellular iron homeostasis.

Shi Y, Ghosh MC, Tong WH, Rouault TA. Shi Y, et al. Among authors: rouault ta. Hum Mol Genet. 2009 Aug 15;18(16):3014-25. doi: 10.1093/hmg/ddp239. Epub 2009 May 18. Hum Mol Genet. 2009. PMID: 19454487 Free PMC article.

4

Characterization of the human HSC20, an unusual DnaJ type III protein, involved in iron-sulfur cluster biogenesis.

Uhrigshardt H, Singh A, Kovtunovych G, Ghosh M, Rouault TA. Uhrigshardt H, et al. Among authors: rouault ta. Hum Mol Genet. 2010 Oct 1;19(19):3816-34. doi: 10.1093/hmg/ddq301. Epub 2010 Jul 28. Hum Mol Genet. 2010. PMID: 20668094 Free PMC article.

5

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH. Cameron JM, et al. Among authors: rouault ta. Am J Hum Genet. 2011 Oct 7;89(4):486-95. doi: 10.1016/j.ajhg.2011.08.011. Epub 2011 Sep 22. Am J Hum Genet. 2011. PMID: 21944046 Free PMC article.

6

Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia.

Xia H, Cao Y, Dai X, Marelja Z, Zhou D, Mo R, Al-Mahdawi S, Pook MA, Leimkühler S, Rouault TA, Li K. Xia H, et al. Among authors: rouault ta. PLoS One. 2012;7(10):e47847. doi: 10.1371/journal.pone.0047847. Epub 2012 Oct 17. PLoS One. 2012. PMID: 23082224 Free PMC article.

7

Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscle.

Crooks DR, Natarajan TG, Jeong SY, Chen C, Park SY, Huang H, Ghosh MC, Tong WH, Haller RG, Wu C, Rouault TA. Crooks DR, et al. Among authors: rouault ta. Hum Mol Genet. 2014 Jan 1;23(1):24-39. doi: 10.1093/hmg/ddt393. Epub 2013 Aug 13. Hum Mol Genet. 2014. PMID: 23943793 Free PMC article.

8

Cytosolic HSC20 integrates de novo iron-sulfur cluster biogenesis with the CIAO1-mediated transfer to recipients.

Kim KS, Maio N, Singh A, Rouault TA. Kim KS, et al. Among authors: rouault ta. Hum Mol Genet. 2018 Mar 1;27(5):837-852. doi: 10.1093/hmg/ddy004. Hum Mol Genet. 2018. PMID: 29309586 Free PMC article.

9

Assembly of the [4Fe-4S] cluster of NFU1 requires the coordinated donation of two [2Fe-2S] clusters from the scaffold proteins, ISCU2 and ISCA1.

Jain A, Singh A, Maio N, Rouault TA. Jain A, et al. Among authors: rouault ta. Hum Mol Genet. 2020 Nov 25;29(19):3165-3182. doi: 10.1093/hmg/ddaa172. Hum Mol Genet. 2020. PMID: 32776106 Free PMC article.

10

Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.

Li K, Besse EK, Ha D, Kovtunovych G, Rouault TA. Li K, et al. Among authors: rouault ta. Hum Mol Genet. 2008 Aug 1;17(15):2265-73. doi: 10.1093/hmg/ddn127. Epub 2008 Apr 17. Hum Mol Genet. 2008. PMID: 18424449 Free PMC article.

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