Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

Item
http://www.wikidata.org/entity/Q49121755
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processingMitochondrial genetic diseases.Evaluation of the child with suspected mitochondrial liver diseasePotentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndromeAlteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia.Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions.Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).Forearm deoxyhemoglobin and deoxymyoglobin (deoxy[Hb + Mb]) measured by near-infrared spectroscopy (NIRS) using a handgrip test in mitochondrial myopathy.Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
P2860

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

Item
http://www.wikidata.org/entity/Q49121755
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年學術文章
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name
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
@en
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
@nl
type
label
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
@en
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
@nl
prefLabel
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
@en
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P921