A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency
about
Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complexCryptic proteolytic activity of dihydrolipoamide dehydrogenaseDual mode action of mangiferin in mouse liver under high fat dietStructural alterations induced by ten disease-causing mutations of human dihydrolipoamide dehydrogenase analyzed by hydrogen/deuterium-exchange mass spectrometry: Implications for the structural basis of E3 deficiency.Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiencyRapid determination of tricarboxylic acid cycle enzyme activities in biological samples.Regulation of pyruvate metabolism and human diseaseA metabolic model of the mitochondrion and its use in modelling diseases of the tricarboxylic acid cycle.Behavioral impact of the regulation of the brain 2-oxoglutarate dehydrogenase complex by synthetic phosphonate analog of 2-oxoglutarate: implications into the role of the complex in neurodegenerative diseases.Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells.Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathwayDifficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.Revisiting the TCA cycle: signaling to tumor formationLipoic acid biosynthesis defects.Differential diagnosis of lipoic acid synthesis defects.Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.Structural alterations by five disease-causing mutations in the low-pH conformation of human dihydrolipoamide dehydrogenase (hLADH) analyzed by molecular dynamics - Implications in functional loss and modulation of reactive oxygen species generationStimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase
P2860
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P2860
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency
description
2005 nî lūn-bûn
@nan
2005 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մարտին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A novel mutation in the dihydr ...... arate dehydrogenase deficiency
@ast
A novel mutation in the dihydr ...... arate dehydrogenase deficiency
@en
A novel mutation in the dihydr ...... arate dehydrogenase deficiency
@nl
type
label
A novel mutation in the dihydr ...... arate dehydrogenase deficiency
@ast
A novel mutation in the dihydr ...... arate dehydrogenase deficiency
@en
A novel mutation in the dihydr ...... arate dehydrogenase deficiency
@nl
prefLabel
A novel mutation in the dihydr ...... arate dehydrogenase deficiency
@ast
A novel mutation in the dihydr ...... arate dehydrogenase deficiency
@en
A novel mutation in the dihydr ...... arate dehydrogenase deficiency
@nl
P2093
P50
P3181
P356
P1433
P1476
A novel mutation in the dihydr ...... arate dehydrogenase deficiency
@en
P2093
Brian H Robinson
Dominique Chretien
Marie-Hélène Odièvre
Noman Kadhom
Renée Dumoulin
Sahben Masmoudi
P3181
P356
10.1002/HUMU.9319
P407
P577
2005-03-01T00:00:00Z