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Ethylmalonic encephalopathy 1

ETHE1, HSCO, YF13H12, ETHE1 protein
This gene encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy.[provided by RefSeq, May 2009] (from NCBI)
Top mentioned proteins: ACID, CAN, HAD, SCAD, AGE
Papers on ETHE1
Severe early onset ethylmalonic encephalopathy with West syndrome.
Spalice et al., Roma, Italy. In Metab Brain Dis, Dec 2015
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain.
Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.
Tiranti et al., Milano, Italy. In Embo Mol Med, Oct 2015
Here, we will review two peculiar mitochondrial disorders, ethylmalonic encephalopathy (EE) and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), caused by mutations in the ETHE1 and TYMP nuclear genes, respectively.
Staphylococcus aureus CstB Is a Novel Multidomain Persulfide Dioxygenase-Sulfurtransferase Involved in Hydrogen Sulfide Detoxification.
Giedroc et al., Nashville, United States. In Biochemistry, Aug 2015
Here, we show that CstB is a multifunctional Fe(II)-containing persulfide dioxygenase (PDO), analogous to the vertebrate protein ETHE1 (ethylmalonic encephalopathy protein 1).
Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy.
Schofield et al., Oxford, United Kingdom. In Hum Mol Genet, Jun 2015
The ethylmalonic encephalopathy protein 1 (ETHE1) catalyses the oxygen-dependent oxidation of glutathione persulfide (GSSH) to give persulfite and glutathione.
Importance of acrocyanosis in delayed walking.
Hiz et al., İzmir, Turkey. In J Pediatr Neurosci, 2015
We present a four-year-old wth ethylmalonic encephalopathy who presented with delayed walking.
Sulfide detoxification in plant mitochondria.
Hell et al., Heidelberg, Germany. In Methods Enzymol, 2014
Two enzymes have been recently described to catalyze sulfide detoxification in mitochondria of Arabidopsis thaliana, O-acetylserine(thiol)lyase C (OAS-TL C), and the sulfur dioxygenase (SDO) ethylmalonic encephalopathy protein 1 (ETHE1).
Identification and characterization of an ETHE1-like sulfur dioxygenase in extremely acidophilic Acidithiobacillus spp.
Lin et al., Jinan, China. In Appl Microbiol Biotechnol, 2014
Elemental sulfur (S(0)) oxidation in Acidithiobacillus spp. is an important process in metal sulfide bioleaching.
A conserved mitochondrial ATP-binding cassette transporter exports glutathione polysulfide for cytosolic metal cofactor assembly.
Balk et al., Cambridge, United Kingdom. In J Biol Chem, 2014
The growth phenotype of atm3-1 was strongly enhanced by depletion of the mitochondrion-localized, GSH-dependent persulfide oxygenase ETHE1, suggesting that the physiological substrate of ATM3 contains persulfide in addition to glutathione.
Stress response of OsETHE1 is altered in response to light and dark conditions.
Sopory et al., New Delhi, India. In Plant Signal Behav, 2013
ETHYLMALONIC ENCEPHALOPATHY PROTEIN1 (ETHE1), encoding sulfur dioxygenase activity is believed to be an important candidate in sulfur metabolism, where it is involved in amino acid catabolism during carbohydrate starvation and embryo development as seen in Arabidopsis thaliana.
Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.
Gomes et al., Lisbon, Portugal. In Plos One, 2013
Mutations in ETHE1 causing loss of function result in sulfide toxicity and in the rare fatal disease Ethylmalonic Encephalopathy (EE).
Mitochondrial proteomics--a tool for the study of metabolic disorders.
Palmfeldt et al., Århus, Denmark. In J Inherit Metab Dis, 2012
The study of cultured skin fibroblasts from patients with ethylmalonic aciduria associated with variations in the genes coding for short-chain acyl-CoA dehydrogenase (SCAD) or ETHE1 are two of the examples.
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.
Zeviani et al., Milano, Italy. In Nat Med, 2010
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a mitochondrial matrix sulfur dioxygenase, leading to failure to detoxify sulfide, a product of intestinal anaerobes and, in trace amounts, tissues.
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
Zeviani et al., Milano, Italy. In Nat Med, 2009
ETHE1 is a mitochondrial sulfur dioxygenase involved in catabolism of sulfide that accumulates to toxic levels in ethylmalonic encephalopathy.
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
Tiranti et al., Milano, Italy. In J Med Genet, 2008
14 patients with EE were investigated for mutations in the ETHE1 gene. Of the 14 patients, 5 were found to carry novel mutations.
Structure of an ETHE1-like protein from Arabidopsis thaliana.
Phillips et al., Madison, United States. In Acta Crystallogr D Biol Crystallogr, 2006
structural comparison of human ETHE1 and At1g53580 from Arabidopsis thaliana
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Zeviani et al., Milano, Italy. In J Med Genet, 2006
Mutations of ETHE1 were detected in all the typical ethylmalonic encephalopathy patients analysed, but no ETHE1 mutations were identified in patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria.
Search for new biomarkers of gastric cancer through serial analysis of gene expression and its clinical implications.
Nakayama et al., Hiroshima, Japan. In Cancer Sci, 2004
Commonly up-regulated genes in gastric cancer in comparison with normal gastric epithelia included CEACAM6, APOC1 and YF13H12.
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
Zeviani et al., Milano, Italy. In Am J Hum Genet, 2004
role of the ETHE1 gene product in mitochondrial homeostasis and energy metabolism
A novel protein overexpressed in hepatoma accelerates export of NF-kappa B from the nucleus and inhibits p53-dependent apoptosis.
Fujita et al., Kyoto, Japan. In Cancer Cell, 2002
Here we report identification of HSCO that binds to NF-kappa B and inhibits apoptosis.
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