(Q37220086)

19 August 2017

1 reference

title

Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders (English)

1 reference

19 August 2017

0 references

1 reference

Denise M Kirby

1

1 reference

PubMed ID

18637740

19 August 2017

David R Thorburn

series ordinal

2

1 reference

PubMed ID

18637740

19 August 2017

language of work or name

English

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publication date

1 August 2008

1 reference

Twin Research and Human Genetics

19 August 2017

1 reference

19 August 2017

11

1 reference

19 August 2017

4

1 reference

19 August 2017

395-411

1 reference

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

19 August 2017

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

A novel X-linked gene, G4.5. is responsible for Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mitochondrial respiratory-chain diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

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/10.1375%2FTWIN.11.4.395

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mitochondrial DNA polymerase-gamma and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Human deafness dystonia syndrome is a mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Clinical spectrum and diagnosis of mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

C6ORF66 is an assembly factor of mitochondrial complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

21 January 2018

Mitochondrial disease

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Maternal inheritance and the evaluation of oxidative phosphorylation diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Human Gene Mutation Database (HGMD): 2003 update.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mitochondrial disorders: prevalence, myths and advances.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

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/10.1375%2FTWIN.11.4.395

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1375%2FTWIN.11.4.395

21 January 2018

Identifiers

DOI

10.1375/TWIN.11.4.395

1 reference

19 August 2017

1 reference

PubMed ID

18637740