PubRank

Vamsi K Mootha

Author PubWeight™ 327.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A 2005 167.46
2 A mitochondrial protein compendium elucidates complex I disease biology. Cell 2008 13.51
3 Metabolite profiles and the risk of developing diabetes. Nat Med 2011 12.22
4 Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1alpha null mice. Cell 2004 8.58
5 mTOR controls mitochondrial oxidative function through a YY1-PGC-1alpha transcriptional complex. Nature 2007 7.12
6 Metabolite profiling identifies a key role for glycine in rapid cancer cell proliferation. Science 2012 6.79
7 Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter. Nature 2011 6.48
8 Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet 2010 5.79
9 MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake. Nature 2010 4.88
10 Systematic identification of human mitochondrial disease genes through integrative genomics. Nat Genet 2006 4.67
11 Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. Proc Natl Acad Sci U S A 2009 4.58
12 A mammalian organelle map by protein correlation profiling. Cell 2006 4.54
13 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 2012 4.02
14 Metabolic profiling of the human response to a glucose challenge reveals distinct axes of insulin sensitivity. Mol Syst Biol 2008 3.82
15 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet 2010 3.31
16 TXNIP regulates peripheral glucose metabolism in humans. PLoS Med 2007 3.27
17 MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006 3.17
18 Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis. Nat Biotechnol 2010 3.08
19 Abnormal glucose homeostasis in skeletal muscle-specific PGC-1alpha knockout mice reveals skeletal muscle-pancreatic beta cell crosstalk. J Clin Invest 2007 3.02
20 Engineered ascorbate peroxidase as a genetically encoded reporter for electron microscopy. Nat Biotechnol 2012 2.98
21 Large-scale chemical dissection of mitochondrial function. Nat Biotechnol 2008 2.91
22 Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men. Diabetes Care 2005 2.52
23 Mitochondrial disorders as windows into an ancient organelle. Nature 2012 2.51
24 Metabolite profiling of blood from individuals undergoing planned myocardial infarction reveals early markers of myocardial injury. J Clin Invest 2008 2.46
25 Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis. Cell Metab 2009 2.45
26 EMRE is an essential component of the mitochondrial calcium uniporter complex. Science 2013 2.39
27 The mitochondrial proteome and human disease. Annu Rev Genomics Hum Genet 2010 2.38
28 MICU1 controls both the threshold and cooperative activation of the mitochondrial Ca²⁺ uniporter. Cell Metab 2013 2.15
29 TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis. Cell 2012 2.03
30 MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling. PLoS One 2013 1.99
31 Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet 2008 1.58
32 A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis. PLoS Genet 2009 1.56
33 Disease gene discovery through integrative genomics. Annu Rev Genomics Hum Genet 2005 1.51
34 Evolutionary diversity of the mitochondrial calcium uniporter. Science 2012 1.45
35 A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells. Proc Natl Acad Sci U S A 2010 1.43
36 MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter. EMBO Rep 2014 1.40
37 MCU encodes the pore conducting mitochondrial calcium currents. Elife 2013 1.39
38 Targeted exome sequencing of suspected mitochondrial disorders. Neurology 2013 1.39
39 The homeobox protein Prox1 is a negative modulator of ERR{alpha}/PGC-1{alpha} bioenergetic functions. Genes Dev 2010 1.32
40 Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 2013 1.30
41 Mitochondrial and nuclear genomic responses to loss of LRPPRC expression. J Biol Chem 2010 1.27
42 New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol 2013 1.26
43 Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain 2012 1.16
44 Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metab 2011 1.14
45 Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. Neurogenetics 2014 1.13
46 Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. Mol Genet Metab 2011 1.13
47 FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Hum Mol Genet 2010 1.08
48 Distilling pathophysiology from complex disease genetics. Cell 2013 1.07
49 Inborn variation in metabolism. Nat Genet 2010 1.01
50 MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. Arch Neurol 2012 0.96
51 Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. Hum Mol Genet 2013 0.95
52 Meclizine is neuroprotective in models of Huntington's disease. Hum Mol Genet 2010 0.92
53 The Sarcoid-Tuberculosis link: evidence from a high TB prevalence country. J Infect 2010 0.91
54 A chemical screen probing the relationship between mitochondrial content and cell size. PLoS One 2012 0.91
55 Complementary RNA and protein profiling identifies iron as a key regulator of mitochondrial biogenesis. Cell Rep 2013 0.91
56 Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency. BMC Med Genet 2014 0.89
57 Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease. BMC Med Genet 2012 0.89
58 Medicine. A common pathway for a rare disease? Science 2013 0.89
59 Meclizine inhibits mitochondrial respiration through direct targeting of cytosolic phosphoethanolamine metabolism. J Biol Chem 2013 0.88
60 Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am J Hum Genet 2013 0.86
61 A systematic survey of lipids across mouse tissues. Am J Physiol Endocrinol Metab 2014 0.84
62 A small-molecule screening strategy to identify suppressors of statin myopathy. ACS Chem Biol 2011 0.83
63 Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. JAMA Neurol 2013 0.82
64 Neuraminidase inhibitors for influenza in healthy adults: what we don't know. Natl Med J India 2010 0.81
65 CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity. Hum Mol Genet 2013 0.81
66 Propranolol and the risk of hospitalized myopathy: translating chemical genomics findings into population-level hypotheses. Am Heart J 2010 0.80
67 Buffering mitochondrial DNA variation. Nat Genet 2006 0.78
68 FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Hum Mol Genet 2015 0.78
69 Building an application framework for integrative genomics. AMIA Annu Symp Proc 2003 0.75