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

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Douglass Matthew Turnbull

24 February 2020

main subject

mitochondrial disease

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based on heuristic

inferred from title

author

series ordinal

3

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24 February 2020

Robert William Taylor

series ordinal

2

object named as

Robert W Taylor

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24 February 2020

1

Robert N Lightowlers

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24 February 2020

language of work or name

English

0 references

publication date

24 September 2015

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24 February 2020

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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

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24 February 2020

issue

6255

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24 February 2020

page(s)

1494-1499

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Supercomplex assembly determines electron flux in the mitochondrial electron transport chain

24 February 2020

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Monogenic mitochondrial disorders

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

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

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

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

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Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

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

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

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

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Selective elimination of mitochondrial mutations in the germline by genome editing

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

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

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Targeted exome sequencing of suspected mitochondrial disorders

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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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

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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