Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
about
Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryThe role of mitochondria in cellular iron-sulfur protein biogenesis: mechanisms, connected processes, and diseasesStructural and Spectroscopic Insights into BolA-Glutaredoxin ComplexesMitochondrial Bol1 and Bol3 function as assembly factors for specific iron-sulfur proteins.Role of Nfu1 and Bol3 in iron-sulfur cluster transfer to mitochondrial clients.Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletionCavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo.Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathySpecial delivery: distributing iron in the cytosol of mammalian cells.HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.Dissecting a complex chemical stress: chemogenomic profiling of plant hydrolysatesClinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.Cytosolic BolA Plays a Repressive Role in the Tolerance against Excess Iron and MV-Induced Oxidative Stress in PlantsBiogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease.Overexpression of Catalase Diminishes Oxidative Cysteine Modifications of Cardiac Proteins.Monothiol CGFS glutaredoxins and BolA-like proteins: [2Fe-2S] binding partners in iron homeostasisThe mitochondrial monothiol glutaredoxin S15 is essential for iron-sulfur protein maturation in Arabidopsis thaliana.Protein-mediated assembly of succinate dehydrogenase and its cofactorsMis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell deathOXPHOS mutations and neurodegenerationSynthesis, delivery and regulation of eukaryotic heme and Fe-S cluster cofactors.The iron-sulfur cluster assembly machineries in plants: current knowledge and open questions.Roles of Fe-S proteins: from cofactor synthesis to iron homeostasis to protein synthesis.Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscleMutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesStructural/Functional Properties of Human NFU1, an Intermediate [4Fe-4S] Carrier in Human Mitochondrial Iron-Sulfur Cluster Biogenesis.Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency.Mammalian Fe-S proteins: definition of a consensus motif recognized by the co-chaperone HSC20Cancer-associated SF3B1 mutants recognize otherwise inaccessible cryptic 3' splice sites within RNA secondary structures.Lipoic acid biosynthesis defects.The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.Differential diagnosis of lipoic acid synthesis defects.Mitochondria and Iron: current questions.Iron-sulfur cluster biogenesis and trafficking in mitochondria.Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
P2860
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P2860
Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations in iron-sulfur clust ...... oxoacid dehydrogenase enzymes.
@ast
Mutations in iron-sulfur clust ...... oxoacid dehydrogenase enzymes.
@en
type
label
Mutations in iron-sulfur clust ...... oxoacid dehydrogenase enzymes.
@ast
Mutations in iron-sulfur clust ...... oxoacid dehydrogenase enzymes.
@en
prefLabel
Mutations in iron-sulfur clust ...... oxoacid dehydrogenase enzymes.
@ast
Mutations in iron-sulfur clust ...... oxoacid dehydrogenase enzymes.
@en
P2093
P2860
P1476
Mutations in iron-sulfur clust ...... oxoacid dehydrogenase enzymes.
@en
P2093
Alexandre Janer
Brian H Robinson
Eric A Shoubridge
Isla Ogilvie
Jessie M Cameron
Nevena Mackay
Tracey A Rouault
Valeriy Levandovskiy
Wing-Hang Tong
P2860
P304
P356
10.1016/J.AJHG.2011.08.011
P407
P577
2011-09-22T00:00:00Z