Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism (Q24303561)

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English	Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism	scientific article

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instance of

scholarly article

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title

Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism (English)

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main subject

cell biology

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patient

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based on heuristic

inferred from title

ETHE1 persulfide dioxygenase

1 reference

stated in

GOA release 2020-03-11

hydrogen sulfide metabolic process

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stated in

GOA release 2020-03-11

author name string

Omer Kabil

series ordinal

1

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Ruma Banerjee

series ordinal

2

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language of work or name

English

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publication date

28 December 2012

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published in

Journal of Biological Chemistry

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volume

287

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issue

53

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page(s)

44561-7

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cites work

Human sulfide:quinone oxidoreductase catalyzes the first step in hydrogen sulfide metabolism and produces a sulfane sulfur metabolite

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

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19 March 2017

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

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19 March 2017

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

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19 March 2017

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

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High turnover rates for hydrogen sulfide allow for rapid regulation of its tissue concentrations

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Mitochondria and Sulfide: A Very Old Story of Poisoning, Feeding, and Signaling?

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Hydrogen sulfide and oxygen sensing in the cardiovascular system

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27 September 2017

Spectroscopic studies on Arabidopsis ETHE1, a glyoxalase II-like protein.

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Hydrogen sulfide as an oxygen sensor/transducer in vertebrate hypoxic vasoconstriction and hypoxic vasodilation

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Structure of an ETHE1-like protein from Arabidopsis thaliana

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Structural studies on a mitochondrial glyoxalase II.

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The binding of iron and zinc to glyoxalase II occurs exclusively as di-metal centers and is unique within the metallo-beta-lactamase family

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Expansion of the zinc metallo-hydrolase family of the beta-lactamase fold

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35Sthiosulphate oxidation by rat liver mitochondria in the presence of glutathione

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The 2-His-1-carboxylate facial triad--an emerging structural motif in mononuclear non-heme iron(II) enzymes

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Three enzymatic activities catalyze the oxidation of sulfide to thiosulfate in mammalian and invertebrate mitochondria.

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Whole tissue hydrogen sulfide concentrations are orders of magnitude lower than presently accepted values

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Free and Acid-Labile Hydrogen Sulfide Concentrations in Mouse Tissues: Anomalously High Free Hydrogen Sulfide in Aortic Tissue

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Adaptative metabolic response of human colonic epithelial cells to the adverse effects of the luminal compound sulfide.

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New clinical phenotype of branched-chain acyl-CoA oxidation defect

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21 January 2018

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PubMed

reference URL

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based on heuristic

inferred from PubMed ID database lookup

Arabidopsis glyoxalase II contains a zinc/iron binuclear metal center that is essential for substrate binding and catalysis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23144459

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence that the greening ligand in native butyryl-CoA dehydrogenase is a CoA persulfide

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23144459

retrieved

12 December 2020

based on heuristic

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CoA-persulphide: a possible in vivo inhibitor of mammalian short-chain acyl-CoA dehydrogenase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23144459

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sulfane sulfur

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23144459

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23144459

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glyoxalase II from A. thaliana requires Zn(II) for catalytic activity

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23144459

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1074%2FJBC.M112.407411

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1074/JBC.M112.407411

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3319561

OpenCitations bibliographic resource ID

3319561

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3319561

PMC publication ID

3531769

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3319561

PubMed publication ID

23144459

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3319561

 

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