Protein polysulfidation-dependent persulfide dioxygenase activity of ethylmalonic encephalopathy protein 1
نویسندگان
چکیده
منابع مشابه
Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy
The ethylmalonic encephalopathy protein 1 (ETHE1) catalyses the oxygen-dependent oxidation of glutathione persulfide (GSSH) to give persulfite and glutathione. Mutations to the hETHE1 gene compromise sulfide metabolism leading to the genetic disease ethylmalonic encephalopathy. hETHE1 is a mono-iron binding member of the metallo-β-lactamase (MBL) fold superfamily. We report crystallographic ana...
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For decades, reactive persulfide species including cysteine persulfide (CysSSH) have been known to exist endogenously in organisms. However, the physiological significance of endogenous persulfides remains poorly understood. That cystathionine β-synthase and cystathionine γ-lyase produced CysSSH from cystine was recently demonstrated. An endogenous sulfur transfer system involving CysSSH eviden...
متن کاملEthylmalonic encephalopathy and SCAD deficiency
Ethylmalonic encephalopathy is a devastating, infantile, autosomal recessive, metabolic disorder caused by defects in the mitochondrial sulfur dioxygenase, ETHE1, and characterized by ethylmalonic and methylsuccinic aciduria, lactic acidemia associated with developmental delay, orthostatic acrocyanosis, recurrent petechiae, chronic diarrhea, and abnormalities on brain MRI. The authors also repo...
متن کاملNeurological and Vascular Manifestations of Ethylmalonic Encephalopathy
Objective Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascular lesions including petechial purpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea. Biochemical hallmarks of the disease are persistently high level of lactate, and C4-C5-acylcarniti...
متن کاملEthylmalonic Encephalopathy ETHE1 R163W/R163Q Mutations Alter Protein Stability and Redox Properties of the Iron Centre
ETHE1 is an iron-containing protein from the metallo β-lactamase family involved in the mitochondrial sulfide oxidation pathway. Mutations in ETHE1 causing loss of function result in sulfide toxicity and in the rare fatal disease Ethylmalonic Encephalopathy (EE). Frequently mutations resulting in depletion of ETHE1 in patient cells are due to severe structural and folding defects. However, some...
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ژورنال
عنوان ژورنال: Biochemical and Biophysical Research Communications
سال: 2016
ISSN: 0006-291X
DOI: 10.1016/j.bbrc.2016.10.022