Nemzetközi publikációk a múlt századtól napjainkig

2019

Early Life Supraphysiological Levels of Oxygen Exposure Permanently Impairs Hippocampal Mitochondrial Function

Ramani M, Miller K, Brown J, Kumar R, Kadasamy J, McMahon L, Ballinger S, Ambalavanan N
Scientific Reports 9:Article number: 13364 – Tovább a publikációra

Mitochondrial lipoylation integrates age-associated decline in brown fat thermogenesis

Kazuki Tajima, Kenji Ikeda, Hsin-Yi Chang, Chih-Hsiang Chang, Takeshi Yoneshiro, Yasuo Oguri, Heejin Jun, Jun Wu, Yasushi Ishihama, Shingo Kajimura
Nature Metabolism 1:886–898 – Tovább a publikációra

Cell-type-specific profiling of brain mitochondria reveals functional and molecular diversity

Fecher C, Trovò L, Müller SA, Snaidero N, Wettmarshausen J, Heink S, Ortiz O, Wagner I, Kühn R, Hartmann J, Karl RM, Konnerth A, Korn T, Wurst W, Merkler D, Lichtenthaler DF., Perocchi F, Misgeld T
Nature Neuroscience – Tovább a publikációra

Mitochondria and Inflammation: Cell Death Heats Up

Vringer Esmee, Tait Stephen W. G.
Frontiers in Cell and Developmental Biology 7:100  DOI=10.3389/fcell.2019.00100 – Tovább a publikációra

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, Wojkiewicz GR, Ast T, Wang H, Schleifer G, Stepanova A, Brepoels K, Schoonjans L, Carmeliet P, Galkin A, Ichinose F, Zapol WM, Mootha VK.
Cell Metabolism – Tovább publikációra

Mitochondria as central regulators of neural stem cell fate and cognitive function

Khacho M1, Harris R2, Slack RS3.
Nat Rev Neurosci: 20(1):34-48. doi: 10.1038/s41583-018-0091-3. – Tovább a publikációra

Oxygen and mammalian cell culture: are we repeating the experiment of Dr. Ox?

Ast T, Mootha VK.
Nature Metabolism – Tovább a publikációra

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 Metabolism – Tovább a publikációra

Molecular basis of EMRE-dependence of the human mitochondrial calcium uniporter

MacEwen MJS, Markhard AL, Bozbeyoglu M, Bradford F, Goldberger O, Mootha VK, Sancak Y.
bioRxiv – Tovább a publikációra

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: 177(6):1507-1521 – Tovább a publikációra

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 Reports: 27(5):1364-1375 – Tovább a publikációra

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.
Human Mutation – Tovább a publikációra

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.
Proceedings of the National Academy of Sciences U.S.A.: 116(9):3546-3555 – Tovább a publikációra

A Mitochondrial Approach to Cardiovascular Risk and Disease

Veloso CD, Belew GD, Ferreira LL, Grilo LFF, Jones JG, Portincasa P, Sardão VA, Oliveira PJ
Curr Pharm Des doi: 10.2174/1389203720666190830163735 – Tovább a publikációra

Contemporary Review in Critical Care Medicine: Mitochondria and Critical Illness

Supinski, Gerald S. et al.
CHEST, doi: 10.1016/j.chest.2019.08.2182. – Tovább a publikációra

Enforcement is central to the evolution of cooperation

Ågren JA, Davies NG, Foster KR
Nature Ecology & Evolution 3:1018–1029 – Tovább a publikációra

2018

Evolutionary mitochondrial biology in Titisee

Gray MW, Mootha VK.
IUBMB Journals – Tovább a publikációra

Widespread chromosomal losses and mitochondrial DNA alterations as genetic drivers in Hurthle Cell Carcinoma

Gopal RK, Kubler 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, Lafrate AJ, Wirth L, Parangi S, Leshchiner I, Daniels GH, Mootha VK, Dias-Santagata D, Getz G, McFadden DG.
Cancer Cell: 34(2):242-255 – Tovább a publikációra

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.
Proceedings of the National Academy of Sciences U.S.A.: 115(34):E7960-E7969 – Tovább a publikációra

Cryo-EM structure of a fungal mitochondrial calcium uniporter

Nguyen NX, Armache J, Lee C, Yang Y, Zeng W, Mootha VK, Cheng Y, Bai X, Jiang Y.
Nature: 559(7715):570-574 – Tovább a publikációra

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.
Proceedings of the National Academy of Sciences U.S.A: 115(27):E6283-6290 – Tovább a publikációra

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

Mootha VK, Chinnery PF.
Journal of Inherited Metabolic Disease: 41(5):761-763 – Tovább a publikációra

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, Ali Alshehhi W, Mootha VK, Huusola J, Ben-Omran T.
JIMD Reports: 43:79-83 – Tovább a publikációra

Spatiotemporal compartmentalization of hepatic NADH and NADPH metabolism

Goodman RP, Calvo SE, Mootha VK.
Journal of Biological Chemistry: 293(20):7508-7516 – Tovább a publikációra

2017

The human knockout gene CLYBL connects Itaconate to Vitamin B12

Shen H, Campanello GC, Flicker D, Grabarek Z, Hu J, Luo C, Banerjee R, Mootha VK.
Cell: 171(4):771-782 – Tovább a publikációra

Antibodies to biotin enable large-scale detection of biotinylation sites on proteins

Udeshi ND, Pedram K, Svinkina T, Fereshetian S, Myers SA, Aygun O, Krug K, Clauser K, Ryan D, Ast T, Mootha VK, Ting AY, Carr SA.
Nature Methods: 14:1167-1170 –  Tovább a publikációra

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.
Proceedings of the National Academy of Sciences U.S.A.: 114(43):E9096-E9104 – Tovább a publikációra

Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D’Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMaura S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.
American Journal of Human Genetics: 101(4):525-538 – Tovább a publikációra

Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome

Siegmund S, Yang H, Sharma R, Javors M, Skinner O, Mootha V, Hirano M, Schon EA.
Human Molecular Genetics: 26(23):4588-4605 – Tovább a publikációra

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Garone C, D’Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Zeviani RGM, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M.
Human Molecular Genetics: 26(21):4257-4266 – Tovább a publikációra

A genetically encoded tool for manipulation of NADP+/NADPH in living cells

Cracan V, Titov DV, Shen H, Grabarek Z, Mootha VK.
Nature Chemical Biology: 13(10):1088-1095 – Tovább a publikációra

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, Bodaert 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, Rotig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.
American Journal of Human Genetics: 101(2):239-254 – Tovább a publikációra

CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets

Li Y, Jourdain AA, Calvo SE, Liu JS, Mootha VK.
PLOS Computational Biology: e1005653 – Tovább a publikációra

Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy

Delaney NF, Sharma R, Tadvalkar L, Clish CB, Haller RG, Mootha VK.
Proceedings of the National Academy of Sciences U.S.A.: 114(31): 8402-8407 – Tovább a publikációra

High-affinity cooperative Ca2+ binding by MICU1-MICU2 serves as an on-off switch for the uniporter

Kamer KJ, Grabarek Z, Mootha VK.
EMBO Reports: 18:1397-1411 – Tovább a publikációra

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

Ferrari M, Jain IH, Goldberger O, Rezoagli E, Thoonen R, Chen K, Sosnovik DE, Scherrer-Crosbie M, Mootha VK, Zapol WM.
Proceedings of the National Academy of Sciences U.S.A.: 114(21):E4241-E4250 – Tovább a publikációra

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: 6e24463 – Tovább a publikációra

Comparative analysis of mitochondrial N-termini from mouse, human, and yeast

Calvo SE, Julien O, Clauser KR, Shen H, Kamer KJ, Wells JA, Mootha VK.
Molecular & Cellular Proteomics: 10.1074 – Tovább a publikációra

2016

A genome-wide CRISPR death screen identifies genes essential for oxidative phosphorylation

Arroyo JD, Jourdain AA, Calvo SE, Ballarano CA, Doench JG, Root DE, Mootha VK.
Cell Metabolism: 24(6): 875-885 – Tovább a publikációra

Natural product screening reveals naphthoquinone Complex I bypass factors

Vafai SB, Mevers E, Higgins KW, Fomina Y, Zhang J, Mandinova A, Newman D, Shaw SY, Clardy J, Mootha VK.
PLoS ONE: 11(9): e0162686 – Tovább a publikációra

Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability

Perales-Clemente E, Cook AN, Evans JM, Roellinger S, Secreto F, Emmanuele V, Oglesbee D, Mootha VK, Hirano M, Schon EA, Terzix A, Nelson TJ.
The EMBO Journal: 35(18):1979-1990 – Tovább a publikációra

Mitochondrial dysfunction remodels one-carbon metabolism in human cells

Bao XR, Ong S, 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.
eLife: 5:e10575 – Tovább a publikációra

Architecture of the mitochondrial calcium uniporter

Oxenoid K, Dong Y, Cao C, Cui T, Sancak Y, Markhard AL, Grabarek Z, Kong L, Liu Z, Ouyang B, Cong Y, Mootha VK, Chou JJ.
Nature: 533(7602):269-273 – Tovább a publikációra

Complementation of mitochondrial electron transport chain by manipulation of the NAD+/NADH ratio

Titov DV, Cracan V, Goodman RP, Peng J, Grabarek Z, Mootha VK.
Science: 352(6282):231-235 – Tovább a publikációra

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

Lewis-Smith D, Kamer KJ, Griffin H, Childs A, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF.
Neurology Genetics: 2(2):e59 – Tovább a publikációra

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.
Science: 352(6281):54-61 – Tovább a publikációra

2015

A metabolic signature of mitochondrial dysfunction revealed through a monogenic form of Leigh syndrome

Thompson Legault J, Strittmatter L, Tardif J, Sharma R, Tremblay-Vaillancourt V, Aubut C, Boucher G, Clish CB, Cyr D, Daneault C, Waters PJ, The LSFC Consortium, Vachon L, Morin C, Laprise C, Rioux JD, Mootha VK, Des Rosiers C.
Cell Reports: 13(5):981-989 – Tovább a publikációra

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

Calvo SE, Clauser KR, Mootha VK.
Nucleic Acids Research: 44(D1):D1251-7 – Tovább a publikációra

The molecular era of the mitochondrial calcium uniporter

Kamer KJ, Mootha VK.
Nature Reviews Molcular Cell Biology: 16(9):545-553 – Tovább a publikációra

IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and other mRNAs encoding mitochondrial proteins

Dai N, Zhao L, Wrighting D, Kramer D, Majithia A, Wang Y, Cracan V, Borges-Rivera D, Mootha VK, Nahrendorf M, Thorburn DR, Minichiello L, Altshuler D, Avruch J.
Cell Metabolism: 21(4):609-621 – Tovább a publikációra

Effects of sodium benzoate, a widely used food preservative, on glucose homeostasis and metabolic profiles in humans

Lennerz B, Vafai SB, Delaney NF, Clish CB, Deik AA, Pierce KA, Ludwig DS, Mootha VK.
Molecular Genetics and Metabolism: 114(1):73-79 – Tovább a publikációra

Directed evolution of APEX2 for electron microscopy and proximity labeling

Lam SS, Martell JD, Kamer KJ, Deerinck TJ, Ellisman MH, Mootha VK, Ting AY.
Nature Methods: 12(1):51-54 – Tovább a publikációra

2014

Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA Formyltransferase

Sinha A, Kohrer C, Weber MH, Masuda I, Mootha VK, Hou YM, RajBhandary UL.
Journal of Biological Chemistry: 289(47):32729-32741 – Tovább a publikációra

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominany mitochondrial myopathy

Ajroud-Driss S, Fecto F, Arjoud K, Lalani I, Calvo SE, Mootha VK, Deng HX, Siddique N, Tahmoush AJ, Heiman-Patterson TD, Siddique T.
Neurogenetics: 16(1):1-9 – Tovább a publikációra

Expansion of biological pathways based on evolutionary inference

Li Y, Calvo SE, Gutman R, Liu JS, Mootha VK.
Cell: 158(1):213-225 – Tovább a publikációra

Proteomic mapping of the human mitochondrial intermembrane space in live cells via ratiometric APEX tagging

Hung V, Zou P, Rhee HW, Udeshi ND, Cracan V, Svinkina T, Carr SA, Mootha VK, Ting AY.
Molecular Cell: 55(2):332-341 – Tovább a publikációra

Reconstitution of the mitochondrial calcium uniporter in yeast

Kovacs-Bogdan E, Sancak Y, Kamer KJ, Plovanich M, Jambhekar A, Huber RJ, Myre MA, Blower MD, Mootha VK.
Proceedings of the National Academy of Sciences U.S.A.: 111(24):8985-8990 – Tovább a publikációra

Functional genomic analysis of human mitochondrial RNA processing

Wolf AR, Mootha VK.
Cell Reports: 7(3):918-931 – Tovább a publikációra

The uniporter: From newly identified parts to function

Kamer KJ, Sancak Y, Mootha VK.
Biochemical and Biophysical Research Communications: 449(4):370-372 – Tovább a publikációra

A systematic survey of lipids across mouse tissues

Jain M, Ngoy S, Sheth SA, Swanson RA, Rhee EP, Liao R, Clish CB, Mootha VK, Nilsson R.
American Journal of Physiology-Endocrinology and Metabolism: 306(8):E854-868 – Tovább a publikációra

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

Lieber DS, Hershman SG, Slate NG, Calvo SE, Sims KB, Schmahmann JD, Mootha VK.
BMC Medical Genetics: 15:30 – Tovább a publikációra

MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter

Kamer KJ, Mootha VK.
EMBO Reports: 15(3):299-307 – Tovább a publikációra

Metabolic enzyme expression highlights a key role for MTHFD2 and the mitochondrial folate pathway in cancer

Nilsson R, Jain M, Madhusudhan N, Sheppard NG, Strittmatter L, Kampf C, Huang J, Asplund A, Mootha VK.
Nature Communications: 5:3128 – Tovább a publikációra

CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity

Strittmatter L, Li Y, Nakatsuka NJ, Calvo SE, Grabarek Z, Mootha VK.
Human Molecular Genetics: 23(9):2313-2323 – Tovább a publikációra

2013

A common pathway for a rare disease?

Vafai SB, Mootha VK.
Science: 342(6165):1453-1454 – Tovább a publikációra

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.
Science: 342(6164):1379-1382 – Tovább a publikációra

Macrocytic anemia and mitochondriopathy resulting from a defect in Sideroflexin

4Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, Dimauro S, Paw BH.
American Journal of Human Genetics: 93(5):906-914 – Tovább a publikációra

Meclizine inhibits mitochondrial respiration through direct targeting of cytosolic phosphoethanolamine metabolism

Gohil VM, Zhu L, Baker CD, Cracan V, Yaseen A, Jain M, Clish CB, Brookes PS, Bakovic M, Mootha VK.
Journal of Biological Chemistry: 288(49): 35387-95 – Tovább a publikációra

Distilling pathophysiology from complex disease genetics

Chakravarti A, Clark AG, Mootha VK.
Cell: 155(1):21-26 – Tovább a publikációra

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 C, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, Compton AG.
Human Molecular Genetics:(22): 4460-4473 – Tovább a publikációra

New treatments for mitochondrial disease-no time to drop our standards

Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF.
Nature Reviews Neurology: (8):474-481 – Tovább a publikációra

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9

Garone C, Donati MA, Sacchini M, Garcia-Diaz B, Bruno C, Calvo S, Mootha VK, Dimauro S.
JAMA Neurology: 70(9):1177-1179 – Tovább a publikációra

MCU encodes the pore conducting mitochondrial calcium currents

Chaudhuri D, Sancak Y, Mootha VK, Clapham DE.
eLife: 2:e00704 – Tovább a publikációra

MICU1 controls both the threshold and cooperative activation of the mitochondrial Ca(2+) uniporter

Csordás G, Golenár T, Seifert EL, Kamer KJ, Sancak Y, Perocchi F, Moffat C, Weaver D, Perez Sde L, Bogorad R, Koteliansky V, Adijanto J, Mootha VK, Hajnóczky G.
Cell Metabolism: 17(6):976-987 – Tovább a publikációra

MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling

Plovanich M, Bogorad RL, Sancak Y, Kamer KJ, Strittmatter L, Li AA, Girgis HS, Kuchimanchi S, De Groot J, Speciner L, Taneja N, OShea J, Koteliansky V, Mootha VK
PLoS One: 8(2):e55785 – Tovább a publikációra

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
Neurology: 80(19):1762-1770 – Tovább a publikációra

Proteomic mapping of mitochondria in living cells via spatially restricted enzymatic tagging

Rhee HW, Zou P, Udeshi ND, Martell JD, Mootha VK, Carr SA, Ting AY
Science: 339(6125):1328-1331 – Tovább a publikációra

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, Dimauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T Minczuk M, Kunz WS, Prokisch H.
Nature Genetics: 45(2):214-219 – Tovább a publikációra

Complementary RNA and protein profiling identifies iron as a key regulator of mitochondrial biogenesis

Rensvold JW, Ong SE, Jeevananthan A, Carr SA, Mootha VK, Pagliarini DJ.
Cell Reports: 3(1):237-245 – Tovább a publikációra

2012

Mitochondrial disorders as windows into an ancient organelle

Vafai SB, Mootha VK.
Nature: 491(7424):374-383 – Tovább a publikációra

Engineered ascorbate peroxidase as a genetically encoded reporter for electron microscopy

Martell JD, Deerinck TJ, Sancak Y, Poulos TL, Mootha VK, Sosinsky GE, Ellisman MH, Ting AY.
Nature Biotechnology: 30(11):1143-1148 – Tovább a publikációra

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, Dimauro S, Comi GP, Sciacco M.
Brain: 135(11):3404-3415 – Tovább a publikációra

TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis

Ye L, Kleiner S, Wu J, Sah R, Gupta RK, Banks AS, Cohen P, Khandekar MJ, Boström P, Mepani RJ, Laznik D, Kamenecka TM, Song X, Liedtke W, Mootha VK, Puigserver P, Griffin PR, Clapham De, Spiegelman BM.
Cell: 151(1):96-110 – Tovább a publikációra

MPV17 mutations causing adult-onset multisystemic disorder with multple mitochondrial DNA deletions

Garone C, Rubio JC, Calvo SE, Naini A, Tanji K, Dimauro S, Mootha VK, Hirano M.
Archives of Neurology: 69(12):1648-1651 – Tovább a publikációra

Circulating branched-chain amino acid concentrations are associated with obesity and future insulin resistance in children and adolescents

McCormack SE, Shaham O, McCarthy MA, Deik AA, Wang TJ, Gerszten RE, Clish CB, Mootha VK, Grinspoon SK, Fleischman A.
Pediatric Obesity: 8(1):52-61 – Tovább a publikációra

Metabolite profiling reveals a key role for glycine in rapid cancer cell proliferation

Jain M, Nilsson R, Sharma S, Madhusudhan N, Kitami T, Souza A, Kafri R, Kirschner MW, Clish CB, Mootha VK.
Science: 336(6084):1040-1044 – Tovább a publikációra

Evolutionary diversity of the mitochondrial calcium uniporter

Bick AG, Calvo SE, Mootha VK.
Science: 336(6083):86 – Tovább a publikációra

A chemical screen probing the relationship between mitochondral content and cell size

Kitami T, Logan DJ, Negri J, Hasaka T, Tolliday NJ, Carpenter AE, Spiegelman BM, Mootha VK.
PLoS ONE: 7(3):e33755 – Tovább a publikációra

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.
Science Translational Medicine: 4(118):118ra10 – Tovább a publikációra

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.
BMC Medical Genetics: 13(1):3 – Tovább a publikációra

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Nardocci N, Mootha VK, Tiranti V.
Molecular Genetics and Metabolism: 105(3):463-471 – Tovább a publikációra

2011

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

Tucker EJ, Hershman SG, Kohrer 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.
Cell Metabolism: 14(3):428-434 – Tovább a publikációra

A small-molecule screening strategy to identify suppressors of statin myopathy

Wagner BK, Gilbert TJ, Hanai J, Imamura S, Bodycombe NE, Bon RS, Waldmann H, Clemons PA, Sukhatme VP, Mootha VK.
ACS Chemical Biology: 6(9):900-904 – Tovább a publikációra

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

Baughman J, Perocchi F, Girgis H, Plovanich M, Belcher-Timme CA, Sancak Y, Bao XR, Strittmatter L, Goldberger O, Bogorad RL, Koteliansky V, Mootha VK.
Nature: 476(7360):341-345 – Tovább a publikációra

Metabolite profiles and the risk of developing diabetes

Wang T, Larson MG, Ramachandran VS, Cheng S, Rhee EP, McCabe E, Lewis GD, Foz CS, Jacques PF, Fernandez C, O’Donnell CJ, Carr SA, Mootha VK, Florez JC, Souza A, Melander O, Clish CB, Gerszten RE.
Nature Medicine: 17(4):448-453 – Tovább a publikációra

2010

Meclizine is neuroprotective in models of Huntington’s disease

Gohil VM, Offner N, Walker JA, Sheth SA, Fossale E, Gusella JF, MacDonald ME, Neri C, Mootha, VK.
Human Molecular Genetics: 20(2):294-300 – Tovább a publikációra

FOXRED1, encoding a FAD-dependent oxidoreductase complex-I specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindizicz M, Rahman S.
Human Molecular Genetics: 19(24):4837-4847 – Tovább a publikációra

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 O, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK.
Nature Genetics: 42(10):851-858 – Tovább a publikációra

Common inherited variation in mitochondrial genes is not enriched for associations with Type 2 Diabetes or related glycemic traits

Segre AV, DIAGRAM Consortium, MAGIC investigators, Leif Groop, Mootha VK, Daly MJ, Altshuler D.
PLoS Genetics: 6(8):e1001058 – Tovább a publikációra

MICU1 encodes a mitochondrial EF hand protein required for Ca2+ uptake

Perocchi F, Gohil VK, Girgis H, Bao R., McCombs JE, Palmer AE, Mootha VK.
Nature: 467(7313):291-296 – Tovább a publikációra

The mitochondrial proteome and human disease

Calvo SE, Mootha VK.
Annual Review of Genomics and Human Genetics: 11:25-44 – Tovább a publikációra

Mitochondrial and nuclear genomic responses to loss of LRPPRC expression

Gohil VM, Nilsson R, Belcher-Timme CA, Luo B, Root DE, Mootha VK.
Journal of Biological Chemistry: 285(18):13742-13747. – Tovább a publikációra

The homeobox protein Prox1 is a negative modulator of ERRα/PGC-1α bioenergetic functions

Charest-Marcotte A, Dufour C, Wilson BJ, Tremblay AM, Eichner LJ, Arlow DH, Mootha VK, Giguere V.
Genes & Development: 10:537-542 – Tovább a publikációra

Propranolol and the risk of hospitalized myopathy: Translating chemical genomics findings into population-level hypotheses

Setoguchi S, Higgins JM, Mogun H, Mootha VK, Avorn J.
American Heart Journal: 159:428-433 – Tovább a publikációra

Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis

Gohil VM, Sheth SA, Nilsson R, Wojtovich AP, Lee JH, Perocchi F, Chen W, Clish CB, Ayata C, Brookes PS, Mootha VK.
Nature Biotechnology: 28(3):249-255 – Tovább a publikációra

Inborn variation in metabolism

Mootha VK, Hirschhorn JN.
Nature Genetics: 42(2):97-98 – Tovább a publikációra

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.
Proceedings of the National Academy of Sciences U.S.A: 107(4):1571-1575 – Tovább a publikációra

2009

Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis

Nilsson R, Schultz IJ, Pierce EL, Soltis KA, Naranuntarat A, Ward DM, Baughman JM, Paradkar PN, Kingsley PD, Culotta VC, Kaplan J, Palis J, Paw BH, Mootha VK.
Cell Metabolism: 10:119-130 – Tovább a publikációra

A computational screen for regulators of oxidative phosphorylation Implicates SLIRP in mitochondrial RNA homeostasis

Baughman JM, Nilsson R, Gohil VM, Arlow DH, Gauhar Z, Mootha VK.
PLoS Genetics: 5(8): e10000590 – Tovább a publikációra

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

Calvo SE, Pagliarini DJ, Mootha VK.
Proceedings of the National Academy of Sciences U.S.A: 106(18):7507-7512 – Tovább a publikációra

2008

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HM, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR.
American Journal of Human Genetics: 83:468-478 – Tovább a publikációra

Metabolic profiling of the human response to a glucose challenge reveals distinct axes of insulin sensitivity

Shaham O, Wei R, Wang TJ, Ricciardi C, Lewis GD, Vasan RS, Carr SA, Thadhani R, Gerszten RE, Mootha VK.
Molecular Systems Biology: 4:214 – Tovább a publikációra

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.
Cell: 134:112-123 – Tovább a publikációra

Large-scale chemical dissection of mitochondrial function

Wagner BK, Kitami T, Gilbert TJ, Peck D, Ramanathan A, Schreiber SL, Golub TR, Mootha VK.
Nature Biotechnology: 26:343-351 – Tovább a publikációra

2007

mTOR controls mitochondrial oxidative function through a YY1-PGC-1α transcriptional complex

Cunningham JT, Rodgers JT, Arlow DH, Vazquez F, Mootha VK, Puigserver, P.
Nature: Nov 29; 450: 736-740 – Tovább a publikációra

Abnormal glucose homeostasis in skeletal muscle-specific PGC-1α knockout mice reveals skeletal muscle-pancreatic beta cell crosstalk

Handschin C, Choi CS, Chin S, Kim S, Kawamori D, Kurpad AJ, Neubauer N, Hu J, Mootha VK, Kim YB, Kulkarni RN, Shulman GI, Spiegelman BM.
Journal of Clinical Investigation: Nov; 117: 3463-3474 – Tovább a publikációra

TXNIP regulates peripheral glucose metabolism in humans

Parikh H, Carlsson E, Chutkow WA, Johansson LE, Storgaard H, Poulsen P, Saxena R, Ladd C, Schulze PC, Mazzini MJ, Jensen CB, Krook A, Björnholm M, Tornqvist H, Zierath JR, Ridderstråle M, Altshuler D, Lee RT, Vaag A, Groop LC, Mootha VK.
PLoS Medicine: 4:e158 – Tovább a publikációra

2006

Buffering mitochondrial DNA variation

Baughman JM, Mootha VK.
Nature Genetics: 38:1232-1233 – Tovább a publikációra

Mitochondrial endocrinology

Yialamas M, Groop LC, Mootha VK.
Textbook of Mitochondrial Medicine (eds: S. DiMauro, E. Schon, M. Hirano). – Tovább a publikációra

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

Saxena R, Bakker PD, Singer K, Mootha VK, Burtt N, Hirschhorn JN, Gaudet D, Daly MJ, Groop LC, Ardlie KG, Altshuler D.
American Journal of Human Genetics: 79:54-61 – Tovább a publikációra

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara C, D’Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M.
Nature Genetics: 38:570-575 – Tovább a publikációra

Systematic identification of human mitochondrial disease genes through integrative genomics

Calvo S, Jain M, XieX , Sheth SA, Goldberger O, Chang B, Spinazzola A, Zeviani M, Carr SA, Mootha VK.
Nature Genetics: 38:576-582 – Tovább a publikációra

A mammalian organelle map by protein correlation profiling

Foster LJ, de Hoog CL, Zhang Y, Zhang Y, Xie X, Mootha VK, Mann M.
Cell: 125:187-199 – Tovább a publikációra

2005

Systematic discovery of regulatory motifs in human promoters and 3’ UTRs by comparison of several mammals

Xie X, Lu J, Kulbokas EJ, Golub TR, Mootha V, Lindblad-Toh K, Lander ES, Kellis M.
Nature: 434:338-345 – Tovább a publikációra

Disease gene discovery through integrative genomics

Giallourakis C, Henson C, Reich M, Xie X, Mootha VK.
Annual Review of Genomics and Human Genetics: 6:381-406 – Tovább a publikációra

Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men

Pitteloud N, Mootha VK, Dwyer AA, Hardin M, Lee H, Eriksson KF, Tripathy D, Yialamas M, Groop L, Elahi D, Hayes FJ.
Diabetes Care: 28:1636-1642 – Tovább a publikációra

Estrogen-related receptor α (ERRα): A novel target in type 2 diabetes

Handschin C, Mootha VK.
Drug Discovery Today: Therapeutic Strategies: Vol 2; Summer 2005: 151-156 – Tovább a publikációra

Gene set enrichment analysis: A knowledge-based approach for interpreting genomewide expression profiles

Subramanian AS, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA, Paulovich A, Pomeroy SL, Golub TR, Lander ES, Mesirov JP.
Proceedings of the National Academy of Sciences U.S.A.: 102:15545-15550 – Tovább a publikációra

2004

Errα and Gabpa/b specify PGC-1α dependent oxidative phosphorylation gene expression that is altered in diabetic muscle

Mootha VK, Handschin C, Arlow D, Xie X, St-Pierre J, Sihag S, Yang W, Altshuler D, Puigserver P, ES Lander, Spiegelman BM.
Proceedings of the National Academy of Sciences U.S.A.: 101(17):6570-6575 – Tovább a publikációra

A novel mitochondrial tRNAPhe mutation causes MERRF syndrome

Mancuso M, Filosto M, Mootha VK, Rocchi A, Pistolesi S, Murri L, DiMauro S, Siciliano G.
Neurology: 62(11):2119-2121 – Tovább a publikációra

Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1α null mice

Lin J, Wu PH, Tarr PT, Lindenberg KS, St-Pierre J, Zhang CY, Mootha VK, Jager S, Vianna CR, Reznick RM, Cui L, Manieri M, Donovan MX, Wu Z, Cooper MP, Fan MC, Rohas LM, Zavacki AM, Cinti S, Shulman GI, Lowell BB, Krainc D, Spiegelman BM.
Cell: 119:121-135 – Tovább a publikációra

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, SM DiMauro, Hirano M.
Neurology: 64(3):539-541 – Tovább a publikációra

2003

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Zhu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES.
Proceedings of the National Academy of Sciences U.S.A.: 100(2):  605-610 – Tovább a publikációra

PGC-1α responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstråle M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, Tamayo P, Spiegelman BM, Lander ES, Hirschhorn JN, Altshuler D, Groop LC.
Nature Genetics: 34(3):267-273 – Tovább a publikációra

Integrated analysis of protein expression, tissue diversity, and gene regulation in mouse mitochondria

Mootha VK, Bunkenborg J, Olsen J, Hjerrild M, Wisniewski JR, Stahl E, Bolouri M, Ray H, Sihag S, Kamal M, Patterson N, Lander ES, Mann M.
Cell: 115(5):629-640 – Tovább a publikációra

2002

2001

Cytokine stimulation of energy expenditure through p38 MAP kinase activation of PPARγ coactivator-1

Puigserver P, Rhee J, Lin J, Wu Z, Yoon JC, Zhang C, Krauss S, Mootha VK, Lowell BB, Spiegelman BM.
Molecular Cell: 8: 971-982 – Tovább a publikációra

A reversible component of mitochondrial respiratory dysfunction in apoptosis can be rescued by exogenous cytochrome c

Mootha VK, Wei MC, Buttle K, Scorrano L, Panoutsakopoulou V, Korsmeyer SJ.
The EMBO Journal: 20(4):661-671 – Tovább a publikációra

2000

tBID, a membrane-targeted death ligand, oligomerizes BAK to release cytochrome c

Wei MC, Lindsten T, Mootha VK, Weiler S, Gross A, Ashiya M, Thompson CB, Korsmeyer SJ.
Genes & Development: 14:2060-2071 – Tovább a publikációra

Pheochromocytoma induced cardiomyopathy

Mootha VK, Feldman J, Mannting F, Winters GL, Johnson W.
Circulation: 102(4): E11-E13 – Tovább a publikációra

Energy metabolism in uncoupling protein 3 gene knockout mice

Vidal-Puig AJ, Grujic D, Zhang C, Hagen T, Boss O, Ido Y, Szczepanik A, Wade J, Mootha V, Cortright R, Muoio DM, Lowell BB.
Journal of Biological Chemistry: 274(21):16258-16266 – Tovább a publikációra

Ca2+ activation of heart mitochondrial oxidative phosphorylation:  role of the F0/F1-ATPase

Territo PR, Mootha VK, French SA, Balaban RS.
American Journal of Physiology: 278: C423-C434 – Tovább a publikációra

1999

Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic activator PGC-1

Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V, Troy A, Cinti S, Lowell B, Scarpulla RC, Spiegelman BM.
Cell: 98(1):  115-124 – Tovább a publikációra

Assessment of uncoupling activity of uncoupling protein 3 using a yeast heterologous expression system

Zhang CY, Hagen T, Mootha VK, Slieker LJ, Lowell BB.
FEBS Letters: 449: 129-134 – Tovább a publikációra

1997

Maximum oxidative phosphorylation capacity of the mammalian heart

Mootha VK, Arai A, Balaban RS.
American Journal of Physiology: 272: H769-H775 – Tovább a publikációra

1996

Spectroscopic determination of cytochrome oxidase content in tissues containing myoglobin or hemoglobin

Balaban RS, Mootha VK, Arai A.
Analytical Biochemistry: 237: 274-278 – Tovább a publikációra

Neutral carrier based ‘Ca2+-selective’ microelectrodes for the measurement of tetraphenylphosphonium

Mootha VK, French S, Balaban RS.
Analytical Biochemistry: 236: 327-330 – Tovább a publikációra