ETHE1 mutations are specific to ethylmalonic encephalopathy - Wikidata - awgldk - TriplyDB

ETHE1 mutations are specific to ethylmalonic encephalopathy

ETHE1 mutations are specific to ethylmalonic encephalopathy

http://www.wikidata.org/entity/Q24655953

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The Chemical Biology of Human Metallo-β-Lactamase Fold Proteins Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches Clinical heterogeneity in ethylmalonic encephalopathy Severe infantile hypotonia with ethylmalonic aciduria: case report Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy Ethylmalonic 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.C4.4A gene ablation is compatible with normal epidermal development and causes modest overt phenotypes.Spectroscopic studies on Arabidopsis ETHE1, a glyoxalase II-like protein.Neurodevelopmental manifestations of mitochondrial disease.Pathogenesis and treatment of mitochondrial myopathies: recent advances.Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.Distribution, diversity, and activities of sulfur dioxygenases in heterotrophic bacteria.Structural and biochemical analyses indicate that a bacterial persulfide dioxygenase-rhodanese fusion protein functions in sulfur assimilation.Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy.An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.Arabidopsis ETHE1 encodes a sulfur dioxygenase that is essential for embryo and endosperm development.Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.Ethylmalonic Encephalopathy in an Indian Boy.Ethylmalonic encephalopathy associated with crescentic glomerulonephritis.Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.Ethylmalonic acid induces permeability transition in isolated brain mitochondria.Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.A history of mitochondrial diseases.

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ETHE1 mutations are specific to ethylmalonic encephalopathy

http://www.wikidata.org/entity/Q24655953

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2006 nî lūn-bûn

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2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2006 թվականի ապրիլին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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ETHE1 mutations are specific to ethylmalonic encephalopathy

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ETHE1 mutations are specific to ethylmalonic encephalopathy

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ETHE1 mutations are specific to ethylmalonic encephalopathy

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ETHE1 mutations are specific to ethylmalonic encephalopathy

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ETHE1 mutations are specific to ethylmalonic encephalopathy

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ETHE1 mutations are specific to ethylmalonic encephalopathy

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ETHE1 mutations are specific to ethylmalonic encephalopathy

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ETHE1 mutations are specific to ethylmalonic encephalopathy

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Journal of Medical Genetics

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ETHE1 mutations are specific to ethylmalonic encephalopathy

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CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

The Human hydroxyacylglutathione hydrolase (HAGH) gene encodes both cytosolic and mitochondrial forms of glyoxalase II

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

Crystal structure of human glyoxalase II and its complex with a glutathione thiolester substrate analogue

WHAT IF: a molecular modeling and drug design program

The PSIPRED protein structure prediction server

T-Coffee: A novel method for fast and accurate multiple sequence alignment

JPred: a consensus secondary structure prediction server

3D-Jury: a simple approach to improve protein structure predictions

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