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Items: 1 to 20 of 142

1.

Leigh Syndrome Mouse Model Can Be Rescued by Interventions that Normalize Brain Hyperoxia, but Not HIF Activation.

Jain IH, Zazzeron L, Goldberger O, Marutani E, Wojtkiewicz GR, Ast T, Wang H, Schleifer G, Stepanova A, Brepoels K, Schoonjans L, Carmeliet P, Galkin A, Ichinose F, Zapol WM, Mootha VK.

Cell Metab. 2019 Aug 6. pii: S1550-4131(19)30379-1. doi: 10.1016/j.cmet.2019.07.006. [Epub ahead of print]

PMID:
31402314
2.

Correction: Proteomic mapping of cytosol-facing outer mitochondrial and ER membranes in living human cells by proximity biotinylation.

Hung V, Lam SS, Udeshi ND, Svinkina T, Guzman G, Mootha VK, Carr SA, Ting AY.

Elife. 2019 Aug 5;8. pii: e50707. doi: 10.7554/eLife.50707.

3.

Epstein-Barr-Virus-Induced One-Carbon Metabolism Drives B Cell Transformation.

Wang LW, Shen H, Nobre L, Ersing I, Paulo JA, Trudeau S, Wang Z, Smith NA, Ma Y, Reinstadler B, Nomburg J, Sommermann T, Cahir-McFarland E, Gygi SP, Mootha VK, Weekes MP, Gewurz BE.

Cell Metab. 2019 Jun 27. pii: S1550-4131(19)30306-7. doi: 10.1016/j.cmet.2019.06.003. [Epub ahead of print]

4.

Exploring the In Vivo Role of the Mitochondrial Calcium Uniporter in Brown Fat Bioenergetics.

Flicker D, Sancak Y, Mick E, Goldberger O, Mootha VK.

Cell Rep. 2019 Apr 30;27(5):1364-1375.e5. doi: 10.1016/j.celrep.2019.04.013.

5.

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.

Cell. 2019 May 30;177(6):1507-1521.e16. doi: 10.1016/j.cell.2019.03.045. Epub 2019 Apr 25.

PMID:
31031004
6.

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.

Lake NJ, Formosa LE, Stroud DA, Ryan MT, Calvo SE, Mootha VK, Morar B, Procopis PG, Christodoulou J, Compton AG, Thorburn DR.

Hum Mutat. 2019 Jul;40(7):893-898. doi: 10.1002/humu.23753. Epub 2019 Apr 13.

PMID:
30981218
7.

Crystal structure of MICU2 and comparison with MICU1 reveal insights into the uniporter gating mechanism.

Kamer KJ, Jiang W, Kaushik VK, Mootha VK, Grabarek Z.

Proc Natl Acad Sci U S A. 2019 Feb 26;116(9):3546-3555. doi: 10.1073/pnas.1817759116. Epub 2019 Feb 12.

8.

Impaired hypoxic pulmonary vasoconstriction in a mouse model of Leigh syndrome.

Schleifer G, Marutani E, Ferrari M, Sharma R, Skinner O, Goldberger O, Grange RMH, Peneyra K, Malhotra R, Wepler M, Ichinose F, Bloch DB, Mootha VK, Zapol WM.

Am J Physiol Lung Cell Mol Physiol. 2019 Feb 1;316(2):L391-L399. doi: 10.1152/ajplung.00419.2018. Epub 2018 Dec 6.

9.

Evolutionary mitochondrial biology in titisee.

Gray MW, Mootha VK.

IUBMB Life. 2018 Dec;70(12):1184-1187. doi: 10.1002/iub.1958. Epub 2018 Oct 24. No abstract available.

PMID:
30358089
10.

Author Correction: Cryo-EM structure of a fungal mitochondrial calcium uniporter.

Nguyen NX, Armache JP, Lee C, Yang Y, Zeng W, Mootha VK, Cheng Y, Bai XC, Jiang Y.

Nature. 2018 Oct;562(7728):E25. doi: 10.1038/s41586-018-0427-1.

PMID:
30108362
11.

Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma.

Gopal RK, Kübler K, Calvo SE, Polak P, Livitz D, Rosebrock D, Sadow PM, Campbell B, Donovan SE, Amin S, Gigliotti BJ, Grabarek Z, Hess JM, Stewart C, Braunstein LZ, Arndt PF, Mordecai S, Shih AR, Chaves F, Zhan T, Lubitz CC, Kim J, Iafrate AJ, Wirth L, Parangi S, Leshchiner I, Daniels GH, Mootha VK, Dias-Santagata D, Getz G, McFadden DG.

Cancer Cell. 2018 Aug 13;34(2):242-255.e5. doi: 10.1016/j.ccell.2018.06.013.

12.

MICU1 imparts the mitochondrial uniporter with the ability to discriminate between Ca2+ and Mn2+.

Kamer KJ, Sancak Y, Fomina Y, Meisel JD, Chaudhuri D, Grabarek Z, Mootha VK.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E7960-E7969. doi: 10.1073/pnas.1807811115. Epub 2018 Aug 6.

13.

Cryo-EM structure of a fungal mitochondrial calcium uniporter.

Nguyen NX, Armache JP, Lee C, Yang Y, Zeng W, Mootha VK, Cheng Y, Bai XC, Jiang Y.

Nature. 2018 Jul;559(7715):570-574. doi: 10.1038/s41586-018-0333-6. Epub 2018 Jul 11. Erratum in: Nature. 2018 Oct;562(7728):E25.

14.

Oxygen in mitochondrial disease: can there be too much of a good thing?

Mootha VK, Chinnery PF.

J Inherit Metab Dis. 2018 Sep;41(5):761-763. doi: 10.1007/s10545-018-0210-3. Epub 2018 Jun 8. No abstract available.

PMID:
29948481
15.

Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Gopal RK, Calvo SE, Shih AR, Chaves FL, McGuone D, Mick E, Pierce KA, Li Y, Garofalo A, Van Allen EM, Clish CB, Oliva E, Mootha VK.

Proc Natl Acad Sci U S A. 2018 Jul 3;115(27):E6283-E6290. doi: 10.1073/pnas.1711888115. Epub 2018 Jun 18.

16.

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.

Musa S, Eyaid W, Kamer K, Ali R, Al-Mureikhi M, Shahbeck N, Al Mesaifri F, Makhseed N, Mohamed Z, AlShehhi WA, Mootha VK, Juusola J, Ben-Omran T.

JIMD Rep. 2019;43:79-83. doi: 10.1007/8904_2018_107. Epub 2018 May 3.

17.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.

Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.015. No abstract available.

18.

Spatiotemporal compartmentalization of hepatic NADH and NADPH metabolism.

Goodman RP, Calvo SE, Mootha VK.

J Biol Chem. 2018 May 18;293(20):7508-7516. doi: 10.1074/jbc.TM117.000258. Epub 2018 Mar 7. Review.

19.

How many human proteoforms are there?

Aebersold R, Agar JN, Amster IJ, Baker MS, Bertozzi CR, Boja ES, Costello CE, Cravatt BF, Fenselau C, Garcia BA, Ge Y, Gunawardena J, Hendrickson RC, Hergenrother PJ, Huber CG, Ivanov AR, Jensen ON, Jewett MC, Kelleher NL, Kiessling LL, Krogan NJ, Larsen MR, Loo JA, Ogorzalek Loo RR, Lundberg E, MacCoss MJ, Mallick P, Mootha VK, Mrksich M, Muir TW, Patrie SM, Pesavento JJ, Pitteri SJ, Rodriguez H, Saghatelian A, Sandoval W, Schlüter H, Sechi S, Slavoff SA, Smith LM, Snyder MP, Thomas PM, Uhlén M, Van Eyk JE, Vidal M, Walt DR, White FM, Williams ER, Wohlschlager T, Wysocki VH, Yates NA, Young NL, Zhang B.

Nat Chem Biol. 2018 Feb 14;14(3):206-214. doi: 10.1038/nchembio.2576.

20.

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.

Proc Natl Acad Sci U S A. 2017 Oct 24;114(43):E9096-E9104. doi: 10.1073/pnas.1711303114. Epub 2017 Oct 9.

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