(Q38059778)

28 August 2017

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

491

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28 August 2017

7424

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28 August 2017

374-383

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https://scigraph.springernature.com/pub.10.1038/nature11707

28 August 2017

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cites work

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

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

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

21 January 2018

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Hepatic failure and lactic acidosis due to fialuridine (FIAU), an investigational nucleoside analogue for chronic hepatitis B.

21 January 2018

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A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

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The genome sequence of Rickettsia prowazekii and the origin of mitochondria

21 January 2018

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Mosaic origin of the mitochondrial proteome

21 January 2018

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

Structure of the Mammalian Mitochondrial Ribosome Reveals an Expanded Functional Role for Its Component Proteins

21 January 2018

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Bacteriophage origins of mitochondrial replication and transcription proteins

21 January 2018

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

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

21 January 2018

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

Compartmentalization of Mammalian folate-mediated one-carbon metabolism

21 January 2018

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

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

21 January 2018

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

The random collision model and a critical assessment of diffusion and collision in mitochondrial electron transport

21 January 2018

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

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

21 January 2018

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

The cytochrome bc1 and cytochrome c oxidase complexes associate to form a single supracomplex in yeast mitochondria.

21 January 2018

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

The architecture of respiratory complex I

21 January 2018

1 reference

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

Functional modules and structural basis of conformational coupling in mitochondrial complex I.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

21 January 2018

1 reference

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

Aging selectively decreases oxidative capacity in rat heart interfibrillar mitochondria

21 January 2018

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

The function of genomes in bioenergetic organelles

21 January 2018

1 reference

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

Functional consequences of mitochondrial proteome heterogeneity.

21 January 2018

1 reference

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

Cytochrome c oxidase: evolution of control via nuclear subunit addition

21 January 2018

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

Metabolic control of mitochondrial biogenesis through the PGC-1 family regulatory network

21 January 2018

1 reference

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

Control of mitochondrial transport and localization in neurons.

21 January 2018

1 reference

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

21 January 2018

Mechanisms of mitophagy

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

Role of mitochondrial Ca2+ in the regulation of cellular energetics

21 January 2018

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

A Linear Steady-State Treatment of Enzymatic Chains. General Properties, Control and Effector Strength

21 January 2018

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

Sequence and organization of the human mitochondrial genome

21 January 2018

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

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

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

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

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

The mitochondrial proteome and human disease

21 January 2018

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

Monogenic mitochondrial disorders

21 January 2018

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

Aminoacyl tRNA synthetases and their connections to disease

21 January 2018

1 reference

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

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

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

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

21 January 2018

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

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

21 January 2018

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

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

21 January 2018

1 reference

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

Gene-environment interactions in Leber hereditary optic neuropathy

21 January 2018

1 reference

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

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

21 January 2018

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

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

21 January 2018

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Mitochondrial signaling: the retrograde response

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Mitochondrial regulation of cell cycle progression during development as revealed by the tenured mutation in Drosophila

21 January 2018

1 reference

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

The mitochondrial UPR - protecting organelle protein homeostasis

21 January 2018

1 reference

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

Mitochondrial quality control: a matter of life and death for neurons

21 January 2018

1 reference

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

A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

A calcineurin-dependent transcriptional pathway for cardiac hypertrophy

21 January 2018

1 reference

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

A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Mitochondria in innate immune responses

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Why are there no proven therapies for genetic mitochondrial diseases?

21 January 2018

1 reference

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

Metabolic modulation of glioblastoma with dichloroacetate

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

A Method for the Localization of Sites for Oxidative Phosphorylation

21 January 2018

1 reference

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

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

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

Transcriptional control of mitochondrial energy metabolism through the PGC1 coactivators.

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetics. Robust interactions

1 reference

12 December 2020

Prevalence of Mitochondrial 1555A→G Mutation in European Children

1 reference

12 December 2020

Fusion and fission: interlinked processes critical for mitochondrial health

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Treatment for mitochondrial disorders

1 reference

12 December 2020

Acquired mitochondrial impairment as a cause of optic nerve disease

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondria shape hormonally induced cytoplasmic calcium oscillations and modulate exocytosis

1 reference

12 December 2020

Supersizing the mitochondrial respiratory chain

1 reference

12 December 2020

Threshold effect and tissue specificity. Implication for mitochondrial cytopathies

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/NATURE11707

1 reference

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

1 reference