Ethylmalonic encephalopathy (Homo sapiens)

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Inner mitochondrialmembrane MitochondriaEthylmalonicencephalopathyH2SElectronETHE1SOXCoEnzyme QRhodaneseSQROXPHOS pathwaySo3 2-(sulfite)R-SSH, example:S-sulfanylglutathioneR, example:glutathioneSO4 2-(sulfate)S2O3 2-(thiosulfate)


Description

Based on Blau, Chapter 9.

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Quality Tags

Ontology Terms

 

Bibliography

  1. Nenad Blau, Carlo Dionisi Vici, K Michael Gibson, Marinus Duran; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer, 2014
  2. Ziosi M, Di Meo I, Kleiner G, Gao XH, Barca E, Sanchez-Quintero MJ, Tadesse S, Jiang H, Qiao C, Rodenburg RJ, Scalais E, Schuelke M, Willard B, Hatzoglou M, Tiranti V, Quinzii CM; ''Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.''; EMBO Mol Med, 2017 PubMed Europe PMC Scholia
  3. Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P; ''Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.''; J Inherit Metab Dis, 2010 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128249view00:01, 30 January 2024EweitzSoften disease color
128242view23:32, 29 January 2024EweitzSoften disease color
120416view09:37, 30 November 2021Fehrhartfixed graphical clash
119100view09:45, 17 June 2021FinterlyAdded ISBN for book citation
117100view11:32, 17 May 2021EweitzModified title
115141view16:07, 28 January 2021EgonwMade one pathway clickable
114229view21:30, 27 December 2020Andraconnecting lines
114174view16:55, 23 December 2020DeSlOntology Term : 'ethylmalonic encephalopathy pathway' added !
114173view16:55, 23 December 2020DeSlOntology Term : 'ethylmalonic encephalopathy' added !
114172view16:54, 23 December 2020DeSlAdded O2 -> H2O info.
114171view16:49, 23 December 2020DeSlAdded cysteine,pyruvate
114170view16:47, 23 December 2020DeSlAdded disease explanation to description
114169view16:41, 23 December 2020DeSlAnnotated missing protein.
114168view16:39, 23 December 2020DeSlAdded lit. ref for disorder
114167view16:37, 23 December 2020DeSlAdded lit refs.
114164view16:34, 23 December 2020DeSlNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
CoEnzyme QMetaboliteCHEBI:46245 (ChEBI)
ETHE1ProteinO95571 (Uniprot-TrEMBL)
ElectronMetaboliteCHEBI:10545 (ChEBI)
H2SMetaboliteCHEBI:16136 (ChEBI)
OXPHOS pathwayPathwayWP78 (WikiPathways)
R, example: glutathioneMetaboliteCHEBI:57925 (ChEBI)
R-SSH, example: S-sulfanylglutathioneMetaboliteCHEBI:58905 (ChEBI)
RhodaneseProteinQ16762 (Uniprot-TrEMBL)
S2O3 2- (thiosulfate)MetaboliteCHEBI:16094 (ChEBI)
SO4 2- (sulfate)MetaboliteCHEBI:16189 (ChEBI)
SOXProteinP51687 (Uniprot-TrEMBL) aka Sulfite Oxidase
SQRProtein
So3 2- (sulfite)MetaboliteCHEBI:17359 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
R-SSH, example: S-sulfanylglutathioneSo3 2- (sulfite)mim-conversion12982 (Rhea)
So3 2- (sulfite)SO4 2- (sulfate)mim-conversion24601 (Rhea)
mim-conversion12982 (Rhea)
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