Mitochondrial disorders as windows into an ancient organelle (Q38059778)

28 August 2017

title

Mitochondrial disorders as windows into an ancient organelle (English)

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28 August 2017

2

Vamsi K Mootha

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28 August 2017

Scott B Vafai

1

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28 August 2017

language of work or name

English

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publication date

1 November 2012

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28 August 2017

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28 August 2017

volume

491

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28 August 2017

issue

7424

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28 August 2017

page(s)

374-383

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Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case

28 August 2017

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Presence of an acyl carrier protein in NADH:ubiquinone oxidoreductase from bovine heart mitochondria

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Aging selectively decreases oxidative capacity in rat heart interfibrillar mitochondria

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Control of mitochondrial transport and localization in neurons.

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21 January 2018

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Aminoacyl tRNA synthetases and their connections to disease

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

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Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

21 January 2018

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An ER-mitochondria tethering complex revealed by a synthetic biology screen

21 January 2018

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Mmm1p, a mitochondrial outer membrane protein, is connected to mitochondrial DNA (mtDNA) nucleoids and required for mtDNA stability

21 January 2018

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Gene-environment interactions in Leber hereditary optic neuropathy

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Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

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Changes in mitochondrial DNA as a marker of nucleoside toxicity in HIV-infected patients

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Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

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Complex I binding by a virally encoded RNA regulates mitochondria-induced cell death

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

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21 January 2018

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Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

21 January 2018

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Impaired mitochondrial Ca2+ homeostasis in respiratory chain-deficient cells but efficient compensation of energetic disadvantage by enhanced anaerobic glycolysis due to low ATP steady state levels.

21 January 2018

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Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production

21 January 2018

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Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging

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Distinct mitochondrial retrograde signals control the G1-S cell cycle checkpoint

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MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake

21 January 2018

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

21 January 2018

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A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter

21 January 2018

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Retrograde Ca2+ signaling in C2C12 skeletal myocytes in response to mitochondrial genetic and metabolic stress: a novel mode of inter-organelle crosstalk

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CREB activation induced by mitochondrial dysfunction is a new signaling pathway that impairs cell proliferation

21 January 2018

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A calcineurin-dependent transcriptional pathway for cardiac hypertrophy

21 January 2018

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21 January 2018

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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

21 January 2018

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Mitochondria in innate immune responses

21 January 2018

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A mitochondrial-focused genetic interaction map reveals a scaffold-like complex required for inner membrane organization in mitochondria

21 January 2018

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

21 January 2018

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Why are there no proven therapies for genetic mitochondrial diseases?

21 January 2018

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Metabolic modulation of glioblastoma with dichloroacetate

21 January 2018

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Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE11707

Evidence that metformin exerts its anti-diabetic effects through inhibition of complex 1 of the mitochondrial respiratory chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE11707

Extension of Drosophila life span by RNAi of the mitochondrial respiratory chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE11707

A systematic RNAi screen identifies a critical role for mitochondria in C. elegans longevity

21 January 2018

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https://api.crossref.org/works/10.1038%2FNATURE11707

Enzymic Activities of Human Skeletal Muscle Mitochondria: A Tool in Clinical Metabolic Research

21 January 2018

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https://api.crossref.org/works/10.1038%2FNATURE11707

A Method for the Localization of Sites for Oxidative Phosphorylation

21 January 2018

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https://api.crossref.org/works/10.1038%2FNATURE11707

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

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https://api.crossref.org/works/10.1038%2FNATURE11707

Transcriptional control of mitochondrial energy metabolism through the PGC1 coactivators.

21 January 2018

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12 December 2020

Relation between work and phosphate metabolite in the in vivo paced mammalian heart

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12 December 2020

Genetics. Robust interactions

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12 December 2020

Prevalence of Mitochondrial 1555A→G Mutation in European Children

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12 December 2020

Fusion and fission: interlinked processes critical for mitochondrial health

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12 December 2020

On the contribution of the mitochondrial genome to the growth of Chinese hamster embryo cells in culture

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12 December 2020

Loss of mitochondrial membrane potential triggers the retrograde response extending yeast replicative lifespan

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12 December 2020

The ratio of oxidative phosphorylation complexes I-V in bovine heart mitochondria and the composition of respiratory chain supercomplexes

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12 December 2020

Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum

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12 December 2020

Pacemaking in interstitial cells of Cajal depends upon calcium handling by endoplasmic reticulum and mitochondria

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12 December 2020

Treatment for mitochondrial disorders

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12 December 2020

Acquired mitochondrial impairment as a cause of optic nerve disease

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12 December 2020

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

1 reference

12 December 2020

Reductive carboxylation supports growth in tumour cells with defective mitochondria.

1 reference

12 December 2020

1 reference

12 December 2020

Quantification of the contribution of various steps to the control of mitochondrial respiration.

1 reference

12 December 2020

Regulation of mitochondrial biogenesis in skeletal muscle by CaMK

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12 December 2020

Respiratory enzymes in oxidative phosphorylation. III. The steady state.

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12 December 2020

Mitochondria shape hormonally induced cytoplasmic calcium oscillations and modulate exocytosis

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12 December 2020

Supersizing the mitochondrial respiratory chain

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12 December 2020

Threshold effect and tissue specificity. Implication for mitochondrial cytopathies

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12 December 2020

Properties of skeletal muscle mitochondria isolated from subsarcolemmal and intermyofibrillar regions.

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12 December 2020

Identifiers

DOI

10.1038/NATURE11707

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Dimensions Publication ID

28 August 2017

1038425103

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Fatcat ID

release_47qoyaebqfcgfc7ecpaqoghsaa

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/47qoyaebqfcgfc7ecpaqoghsaa

24 November 2022

mapped directly with Wikidata item

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