Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.
about
Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseThe LYR factors SDHAF1 and SDHAF3 mediate maturation of the iron-sulfur subunit of succinate dehydrogenaseSDHAF4 promotes mitochondrial succinate dehydrogenase activity and prevents neurodegeneration.Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHBClinical proton MR spectroscopy in central nervous system disordersMagnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.The genetics of Leigh syndrome and its implications for clinical practice and risk managementMitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.Protein-mediated assembly of succinate dehydrogenase and its cofactorsMammalian Fe-S proteins: definition of a consensus motif recognized by the co-chaperone HSC20Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.Human diseases associated with defects in assembly of OXPHOS complexes
P2860
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P2860
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Leukoencephalopathy with accum ...... related complex II deficiency.
@ast
Leukoencephalopathy with accum ...... related complex II deficiency.
@en
type
label
Leukoencephalopathy with accum ...... related complex II deficiency.
@ast
Leukoencephalopathy with accum ...... related complex II deficiency.
@en
prefLabel
Leukoencephalopathy with accum ...... related complex II deficiency.
@ast
Leukoencephalopathy with accum ...... related complex II deficiency.
@en
P2093
P2860
P356
P1476
Leukoencephalopathy with accum ...... related complex II deficiency.
@en
P2093
Alf Bjornstad
Andreas Ohlenbusch
Johannes Skorpen
Jutta Gärtner
Knut Brockmann
Orly Elpeleg
P2860
P2888
P356
10.1186/1750-1172-7-69
P577
2012-09-20T00:00:00Z
P5875
P6179
1051369524