Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
about
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutationsCharacterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolismThe Chemical Biology of Human Metallo-β-Lactamase Fold ProteinsMitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approachesClinical heterogeneity in ethylmalonic encephalopathyEthylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approachesLoss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathyEthylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy.Knockout of the murine cysteine dioxygenase gene results in severe impairment in ability to synthesize taurine and an increased catabolism of cysteine to hydrogen sulfide.Characterizations of Two Bacterial Persulfide Dioxygenases of the Metallo-β-lactamase Superfamily.Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathySulfur as a signaling nutrient through hydrogen sulfide.Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications.Enzymology of H2S biogenesis, decay and signaling.CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.Distribution, diversity, and activities of sulfur dioxygenases in heterotrophic bacteria.Leigh syndrome: One disorder, more than 75 monogenic causes.Severe early onset ethylmalonic encephalopathy with West syndrome.Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy.An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.Chemical Biology of H2S Signaling through Persulfidation.Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.
P2860
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P2860
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
description
2008 nî lūn-bûn
@nan
2008 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Identification of new mutation ...... th ethylmalonic encephalopathy
@ast
Identification of new mutation ...... th ethylmalonic encephalopathy
@en
Identification of new mutation ...... th ethylmalonic encephalopathy
@nl
type
label
Identification of new mutation ...... th ethylmalonic encephalopathy
@ast
Identification of new mutation ...... th ethylmalonic encephalopathy
@en
Identification of new mutation ...... th ethylmalonic encephalopathy
@nl
prefLabel
Identification of new mutation ...... th ethylmalonic encephalopathy
@ast
Identification of new mutation ...... th ethylmalonic encephalopathy
@en
Identification of new mutation ...... th ethylmalonic encephalopathy
@nl
P2093
P50
P356
P1476
Identification of new mutation ...... th ethylmalonic encephalopathy
@en
P2093
A B Burlina
C Perletti
U von Döbeln
P356
10.1136/JMG.2008.058271
P407
P577
2008-07-01T00:00:00Z