Goldberger O - Search Results

1

A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells.

Shaham O, Slate NG, Goldberger O, Xu Q, Ramanathan A, Souza AL, Clish CB, Sims KB, Mootha VK. Shaham O, et al. Among authors: goldberger o. Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1571-5. doi: 10.1073/pnas.0906039107. Epub 2010 Jan 8. Proc Natl Acad Sci U S A. 2010. PMID: 20080599 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

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.

4

Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter.

Baughman JM, Perocchi F, Girgis HS, Plovanich M, Belcher-Timme CA, Sancak Y, Bao XR, Strittmatter L, Goldberger O, Bogorad RL, Koteliansky V, Mootha VK. Baughman JM, et al. Among authors: goldberger o. Nature. 2011 Jun 19;476(7360):341-5. doi: 10.1038/nature10234. Nature. 2011. PMID: 21685886 Free PMC article.

5

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.

Tucker EJ, Hershman SG, Köhrer C, Belcher-Timme CA, Patel J, Goldberger OA, Christodoulou J, Silberstein JM, McKenzie M, Ryan MT, Compton AG, Jaffe JD, Carr SA, Calvo SE, RajBhandary UL, Thorburn DR, Mootha VK. Tucker EJ, et al. Cell Metab. 2011 Sep 7;14(3):428-34. doi: 10.1016/j.cmet.2011.07.010. Cell Metab. 2011. PMID: 21907147 Free PMC article.

6

EMRE is an essential component of the mitochondrial calcium uniporter complex.

Sancak Y, Markhard AL, Kitami T, Kovács-Bogdán E, Kamer KJ, Udeshi ND, Carr SA, Chaudhuri D, Clapham DE, Li AA, Calvo SE, Goldberger O, Mootha VK. Sancak Y, et al. Among authors: goldberger o. Science. 2013 Dec 13;342(6164):1379-82. doi: 10.1126/science.1242993. Epub 2013 Nov 14. Science. 2013. PMID: 24231807 Free PMC article.

7

Hypoxia as a therapy for mitochondrial disease.

Jain IH, Zazzeron L, Goli R, Alexa K, Schatzman-Bone S, Dhillon H, Goldberger O, Peng J, Shalem O, Sanjana NE, Zhang F, Goessling W, Zapol WM, Mootha VK. Jain IH, et al. Among authors: goldberger o. Science. 2016 Apr 1;352(6281):54-61. doi: 10.1126/science.aad9642. Epub 2016 Feb 25. Science. 2016. PMID: 26917594 Free PMC article.

8

Mitochondrial dysfunction remodels one-carbon metabolism in human cells.

Bao XR, Ong SE, Goldberger O, Peng J, Sharma R, Thompson DA, Vafai SB, Cox AG, Marutani E, Ichinose F, Goessling W, Regev A, Carr SA, Clish CB, Mootha VK. Bao XR, et al. Among authors: goldberger o. Elife. 2016 Jun 16;5:e10575. doi: 10.7554/eLife.10575. Elife. 2016. PMID: 27307216 Free PMC article.

9

Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome.

Ferrari M, Jain IH, Goldberger O, Rezoagli E, Thoonen R, Cheng KH, Sosnovik DE, Scherrer-Crosbie M, Mootha VK, Zapol WM. Ferrari M, et al. Among authors: goldberger o. Proc Natl Acad Sci U S A. 2017 May 23;114(21):E4241-E4250. doi: 10.1073/pnas.1621511114. Epub 2017 May 8. Proc Natl Acad Sci U S A. 2017. PMID: 28483998 Free PMC article.

10

Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter.

Bick AG, Wakimoto H, Kamer KJ, Sancak Y, Goldberger O, Axelsson A, DeLaughter DM, Gorham JM, Mootha VK, Seidman JG, Seidman CE. Bick AG, et al. Among authors: goldberger o. Proc Natl Acad Sci U S A. 2017 Oct 24;114(43):E9096-E9104. doi: 10.1073/pnas.1711303114. Epub 2017 Oct 9. Proc Natl Acad Sci U S A. 2017. PMID: 29073106 Free PMC article.

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