Calvo SE - Search Results

1

Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis.

Ast T, Meisel JD, Patra S, Wang H, Grange RMH, Kim SH, Calvo SE, Orefice LL, Nagashima F, Ichinose F, Zapol WM, Ruvkun G, Barondeau DP, Mootha VK. Ast T, et al. Among authors: calvo se. Cell. 2019 May 30;177(6):1507-1521.e16. doi: 10.1016/j.cell.2019.03.045. Epub 2019 Apr 25. Cell. 2019. PMID: 31031004 Free PMC article.

2

Systematic identification of human mitochondrial disease genes through integrative genomics.

Calvo S, Jain M, Xie X, Sheth SA, Chang B, Goldberger OA, Spinazzola A, Zeviani M, Carr SA, Mootha VK. Calvo S, et al. Nat Genet. 2006 May;38(5):576-82. doi: 10.1038/ng1776. Epub 2006 Apr 2. Nat Genet. 2006. PMID: 16582907

3

A mitochondrial protein compendium elucidates complex I disease biology.

Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK. Pagliarini DJ, et al. Among authors: calvo se. Cell. 2008 Jul 11;134(1):112-23. doi: 10.1016/j.cell.2008.06.016. Cell. 2008. PMID: 18614015 Free PMC article.

4

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.

Calvo SE, Pagliarini DJ, Mootha VK. Calvo SE, et al. Proc Natl Acad Sci U S A. 2009 May 5;106(18):7507-12. doi: 10.1073/pnas.0810916106. Epub 2009 Apr 16. Proc Natl Acad Sci U S A. 2009. PMID: 19372376 Free PMC article.

5

The mitochondrial proteome and human disease.

Calvo SE, Mootha VK. Calvo SE, et al. Annu Rev Genomics Hum Genet. 2010;11:25-44. doi: 10.1146/annurev-genom-082509-141720. Annu Rev Genomics Hum Genet. 2010. PMID: 20690818 Free PMC article. Review.

6

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK. Calvo SE, et al. Nat Genet. 2010 Oct;42(10):851-8. doi: 10.1038/ng.659. Epub 2010 Sep 5. Nat Genet. 2010. PMID: 20818383 Free PMC article.

7

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

Lieber DS, Vafai SB, Horton LC, Slate NG, Liu S, Borowsky ML, Calvo SE, Schmahmann JD, Mootha VK. Lieber DS, et al. Among authors: calvo se. BMC Med Genet. 2012 Jan 6;13:3. doi: 10.1186/1471-2350-13-3. BMC Med Genet. 2012. PMID: 22226368 Free PMC article.

8

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK. Calvo SE, et al. Sci Transl Med. 2012 Jan 25;4(118):118ra10. doi: 10.1126/scitranslmed.3003310. Sci Transl Med. 2012. PMID: 22277967 Free PMC article.

9

Evolutionary diversity of the mitochondrial calcium uniporter.

Bick AG, Calvo SE, Mootha VK. Bick AG, et al. Among authors: calvo se. Science. 2012 May 18;336(6083):886. doi: 10.1126/science.1214977. Science. 2012. PMID: 22605770 Free PMC article.

10

Targeted exome sequencing of suspected mitochondrial disorders.

Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK. Lieber DS, et al. Among authors: calvo se. Neurology. 2013 May 7;80(19):1762-70. doi: 10.1212/WNL.0b013e3182918c40. Epub 2013 Apr 17. Neurology. 2013. PMID: 23596069 Free PMC article.

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