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Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.
- Published in:
- Neurogenetics, 2015, v. 16, n. 1, p. 1, doi. 10.1007/s10048-014-0421-1
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- Publication type:
- Article
Systematic discovery of regulatory motifs in human promoters and 3'UTRs by comparison of several mammals.
- Published in:
- Nature, 2005, v. 434, n. 7031, p. 338, doi. 10.1038/nature03441
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- Publication type:
- Article
CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2313, doi. 10.1093/hmg/ddt624
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- Publication type:
- Article
Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
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- Human Molecular Genetics, 2013, v. 22, n. 22, p. 4460, doi. 10.1093/hmg/ddt295
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- Publication type:
- Article
Meclizine is neuroprotective in models of Huntington's disease.
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- Human Molecular Genetics, 2011, v. 20, n. 2, p. 294, doi. 10.1093/hmg/ddq464
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- Publication type:
- Article
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 24, p. 4837, doi. 10.1093/hmg/ddq414
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- Publication type:
- Article
Metabolic enzyme expression highlights a key role for MTHFD2 and the mitochondrial folate pathway in cancer.
- Published in:
- Nature Communications, 2014, v. 5, n. 1, p. 3128, doi. 10.1038/ncomms4128
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- Publication type:
- Article
288-LB: Effects of the Hepatic Mitochondrial Calcium Uniporter on Hepatic Gluconeogenesis and Mitochondrial Metabolism in Awake Mice.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-288-LB
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- Publication type:
- Article
Molecular Basis of Maximal Oxygen Uptake (VO2max).
- Published in:
- Diabetes, 2007, v. 56, p. A287
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- Publication type:
- Article
Mitochondrial disorders as windows into an ancient organelle.
- Published in:
- Nature, 2012, v. 491, n. 7424, p. 374, doi. 10.1038/nature11707
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- Publication type:
- Article
Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter.
- Published in:
- Nature, 2011, v. 476, n. 7360, p. 341, doi. 10.1038/nature10234
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- Publication type:
- Article
MICU1 encodes a mitochondrial EF hand protein required for Ca<sup>2+</sup> uptake.
- Published in:
- Nature, 2010, v. 467, n. 7313, p. 291, doi. 10.1038/nature09358
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- Publication type:
- Article
mTOR controls mitochondrial oxidative function through a YY1–PGC-1α transcriptional complex.
- Published in:
- Nature, 2007, v. 450, n. 7170, p. 736, doi. 10.1038/nature06322
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- Publication type:
- Article
Human genetic analyses of organelles highlight the nucleus in age-related trait heritability.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.68610
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- Publication type:
- Article
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
- Published in:
- Nature Genetics, 2013, v. 45, n. 2, p. 214, doi. 10.1038/ng.2501
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- Publication type:
- Article
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
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- Nature Genetics, 2010, v. 42, n. 10, p. 851, doi. 10.1038/ng.659
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- Publication type:
- Article
Inborn variation in metabolism.
- Published in:
- Nature Genetics, 2010, v. 42, n. 2, p. 97, doi. 10.1038/ng0210-97
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- Publication type:
- Article
Buffering mitochondrial DNA variation.
- Published in:
- Nature Genetics, 2006, v. 38, n. 11, p. 1232, doi. 10.1038/ng1106-1232
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- Publication type:
- Article
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
- Published in:
- Nature Genetics, 2006, v. 38, n. 5, p. 570, doi. 10.1038/ng1765
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- Publication type:
- Article
Systematic identification of human mitochondrial disease genes through integrative genomics.
- Published in:
- Nature Genetics, 2006, v. 38, n. 5, p. 576, doi. 10.1038/ng1776
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- Publication type:
- Article
Reply to "Statistical concerns about the GSEA procedure".
- Published in:
- 2004
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- Publication type:
- Letter
PGC-1a-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes.
- Published in:
- Nature Genetics, 2003, v. 34, n. 3, p. 267, doi. 10.1038/ng1180
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- Publication type:
- Article
A Computational Screen for Regulators of Oxidative Phosphorylation Implicates SLIRP in Mitochondrial RNA Homeostasis.
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- PLoS Genetics, 2009, v. 5, n. 8, p. 1, doi. 10.1371/journal.pgen.1000590
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- Publication type:
- Article
Structural insights into the Ca<sup>2+</sup>-dependent gating of the human mitochondrial calcium uniporter.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.60513
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- Publication type:
- Article
Proteomic mapping of cytosol-facing outer mitochondrial and ER membranes in living human cells by proximity biotinylation.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.24463.001
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- Publication type:
- Article
Mitochondrial dysfunction remodels one-carbon metabolism in human cells.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.10575
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- Publication type:
- Article
Associations between plasma branched-chain amino acids, β-aminoisobutyric acid and body composition.
- Published in:
- Journal of Nutritional Science, 2016, v. 5, p. 1, doi. 10.1017/jns.2015.37
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- Publication type:
- Article
Engineered ascorbate peroxidase as a genetically encoded reporter for electron microscopy.
- Published in:
- Nature Biotechnology, 2012, v. 30, n. 11, p. 1143, doi. 10.1038/nbt.2375
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- Publication type:
- Article
Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis.
- Published in:
- Nature Biotechnology, 2010, v. 28, n. 3, p. 249, doi. 10.1038/nbt.1606
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- Publication type:
- Article
Corrigendum: Large-scale chemical dissection of mitochondrial function.
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- 2008
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- Publication type:
- Correction notice
Large-scale chemical dissection of mitochondrial function.
- Published in:
- Nature Biotechnology, 2008, v. 26, n. 3, p. 343, doi. 10.1038/nbt1387
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- Publication type:
- Article
Circulating N-lactoyl-amino acids and N-formyl-methionine reflect mitochondrial dysfunction and predict mortality in septic shock.
- Published in:
- Metabolomics, 2024, v. 20, n. 2, p. 1, doi. 10.1007/s11306-024-02089-z
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- Publication type:
- Article
The molecular era of the mitochondrial calcium uniporter.
- Published in:
- Nature Reviews Molecular Cell Biology, 2015, v. 16, n. 9, p. 545, doi. 10.1038/nrm4039
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- Publication type:
- Article
SARS-CoV-2 hijacks folate and one-carbon metabolism for viral replication.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21903-z
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- Publication type:
- Article
Evolutionary mitochondrial biology in titisee.
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- IUBMB Life, 2018, v. 70, n. 12, p. 1184, doi. 10.1002/iub.1958
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- Publication type:
- Article
MICU2, a Paralog of MICU1, Resides within the Mitochondrial Uniporter Complex to Regulate Calcium Handling.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055785
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- Publication type:
- Article
A Chemical Screen Probing the Relationship between Mitochondrial Content and Cell Size.
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- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033755
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- Publication type:
- Article
Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30126-9
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- Publication type:
- Article
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing.
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- Science Translational Medicine, 2012, v. 4, n. 118, p. 1, doi. 10.1126/scitranslmed.3003310
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- Publication type:
- Article
A reversible component of mitochondrial respiratory dysfunction in apoptosis can be rescued by exogenous cytochrome c.
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- EMBO Journal, 2001, v. 20, n. 4, p. 661, doi. 10.1093/emboj/20.4.661
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- Publication type:
- Article
Directed evolution of APEX2 for electron microscopy and proximity labeling.
- Published in:
- Nature Methods, 2015, v. 12, n. 1, p. 51, doi. 10.1038/nmeth.3179
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- Publication type:
- Article
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
- Published in:
- 2021
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- Publication type:
- journal article
Abnormal glucose homeostasis in skeletal muscle-specific PGC-1alpha knockout mice reveals skeletal muscle-pancreatic beta cell crosstalk.
- Published in:
- 2007
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- Publication type:
- journal article
T cell activation contributes to purifying selection against the MELAS‐associated m.3243A>G pathogenic variant in blood.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 757, doi. 10.1002/jimd.12726
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- Publication type:
- Article
Editorial: Mitochondrial medicine special issue.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 289, doi. 10.1002/jimd.12374
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- Publication type:
- Article
Oxygen in mitochondrial disease: can there be too much of a good thing?
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 761, doi. 10.1007/s10545-018-0210-3
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- Publication type:
- Article
High-affinity cooperative Ca<sup>2+</sup> binding by MICU1- MICU2 serves as an on-off switch for the uniporter.
- Published in:
- EMBO Reports, 2017, v. 18, n. 8, p. 1397, doi. 10.15252/embr.201643748
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- Publication type:
- Article
MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter.
- Published in:
- EMBO Reports, 2014, v. 15, n. 3, p. 299, doi. 10.1002/embr.201337946
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- Publication type:
- Article
Tumor cavitation among lung cancer patients receiving first-line chemotherapy at a tertiary care centre in India: association with histology and overall survival.
- Published in:
- Medical Oncology, 2013, v. 30, n. 3, p. 1, doi. 10.1007/s12032-013-0602-z
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- Publication type:
- Article
MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 1, p. D1251, doi. 10.1093/nar/gkv1003
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- Publication type:
- Article