(Q38592664)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26404827%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

Mutations causing mitochondrial disease: What is new and what challenges remain? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26404827%20AND%20SRC:MED&resulttype=core&format=json

Douglass Matthew Turnbull

24 February 2020

main subject

mitochondrial disease

1 reference

based on heuristic

inferred from title

author

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26404827%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Robert William Taylor

series ordinal

2

object named as

Robert W Taylor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26404827%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1

Robert N Lightowlers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26404827%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

language of work or name

English

0 references

publication date

24 September 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26404827%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26404827%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

volume

349

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26404827%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

issue

6255

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26404827%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

page(s)

1494-1499

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26404827%20AND%20SRC:MED&resulttype=core&format=json

Supercomplex assembly determines electron flux in the mitochondrial electron transport chain

24 February 2020

cites work

1 reference

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Sequence and organization of the human mitochondrial genome

21 January 2018

1 reference

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Monogenic mitochondrial disorders

21 January 2018

1 reference

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The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

21 January 2018

1 reference

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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Mitochondrial donation--how many women could benefit?

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

A national perspective on prenatal testing for mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Selective elimination of mitochondrial mutations in the germline by genome editing

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Mitochondrial gene replacement in primate offspring and embryonic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Polar body genome transfer for preventing the transmission of inherited mitochondrial diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Targeted exome sequencing of suspected mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Conformational properties of cardiolipin-bound cytochrome c

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Cytochrome c acts as a cardiolipin oxygenase required for release of proapoptotic factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

The role of cardiolipin in the structural organization of mitochondrial membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

First-in-class cardiolipin-protective compound as a therapeutic agent to restore mitochondrial bioenergetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

The mitochondrial-targeted compound SS-31 re-energizes ischemic mitochondria by interacting with cardiolipin

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Mitochondrial enzyme rhodanese is essential for 5 S ribosomal RNA import into human mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Two distinct structural elements of 5S rRNA are needed for its import into human mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Alternative oxidase expression in the mouse enables bypassing cytochrome c oxidase blockade and limits mitochondrial ROS overproduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy : preparation for gene therapy clinical trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC7516

21 January 2018

Identifiers

DOI

10.1126/SCIENCE.AAC7516

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26404827%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference