(Q33832717)

29 July 2017

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title

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects (English)

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29 July 2017

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2

A H Schapira

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29 July 2017

J V Leonard

1

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PubMed ID

10665569

29 July 2017

language of work or name

English

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publication date

1 January 2000

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29 July 2017

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29 July 2017

355

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29 July 2017

389-394

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29 July 2017

9201

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

29 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Decreased synthesis and inefficient mitochondrial import of hsp60 in a patient with a mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Human deafness dystonia syndrome is a mitochondrial disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Frataxin gene of Friedreich's ataxia is targeted to mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Pathology of the Heart in Friedreich's Ataxia: Review of the Literature and Report of One Case

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Localization of the Wilson's disease protein product to mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illnesses?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Neuropathological changes of the nucleus accumbens in Huntington's chorea

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mitochondrial defect in Huntington's disease caudate nucleus

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Oxidative damage and metabolic dysfunction in Huntington's disease: selective vulnerability of the basal ganglia.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Biochemical abnormalities and excitotoxicity in Huntington's disease brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mitochondrial dysfunction and free radical damage in the Huntington R6/2 transgenic mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Energy metabolism defects in Huntington's disease and effects of coenzyme Q10.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Complex I defect in muscle from patients with Huntington's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Oxidative stress and mitochondrial dysfunction in neurodegeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Origin and functional consequences of the complex I defect in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mitochondrial involvement in Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Functional alterations in Alzheimer's disease: selective loss of mitochondrial-encoded cytochrome oxidase mRNA in the hippocampal formation.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Evidence for physiological down-regulation of brain oxidative phosphorylation in Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mitochondrial and nuclear gene expression for cytochrome oxidase subunits are disproportionately regulated by functional activity in neurons.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Cybrids in Alzheimer's disease: a cellular model of the disease?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

A role for the mitochondrion in the protection of cells against calcium overload?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mitochondria are excitable organelles capable of generating and conveying electrical and calcium signals.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Glutamate-induced neuron death requires mitochondrial calcium uptake

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mitochondrial DNA mutations and mitochondrial dysfunction in epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mitochondrial disease in superoxide dismutase 2 mutant mice

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Ubisemiquinone is the electron donor for superoxide formation by complex III of heart mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mitochondrial disease in mouse results in increased oxidative stress

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Disorders associated with multiple deletions of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

An autosomal locus predisposing to deletions of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Molecular mechanisms in mitochondrial DNA depletion syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mitochondria as regulators of apoptosis: doubt no more.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Bcl-2 family proteins regulate the release of apoptogenic cytochrome c by the mitochondrial channel VDAC

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

Mitochondrial control of apoptosis: the role of cytochrome c

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905226-5

7 January 2021

10.1016/S0140-6736(99)05226-5

Identifiers

DOI

1 reference

29 July 2017

1 reference