Reference on EC 4.2.1.18 - methylglutaconyl-CoA hydratase and Organism(s) Homo sapiens and UniProt Accession Q13825
Please use the Reference Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
topREF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Gibson, K.M.
Assay of 3-methylglutaconyl-CoA hydratase
Methods Enzymol.
166
214-218
1988
Homo sapiens
Gibson, K.M.
3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case
J. Inherit. Metab. Dis.
15
363-366
1992
Homo sapiens
Narisawa, K.; Gibson, K.M.; Sweetman, L.; Nyhan, W.L.
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection
Clin. Chim. Acta
184
57-64
1989
Homo sapiens
Loupatty, F.J.; Ruiter, J.P.N.; Ijlst, L.; Duran, M.; Wanders, R.J.A.
Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I
Clin. Chem.
50
1447-1450
2004
Homo sapiens
Mack, M.; Schniegler-Mattox, U.; Peters, V.; Hoffmann, G.F.; Liesert, M.; Buckel, W.; Zschocke, J.
Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism
FEBS J.
273
2012-2022
2006
Homo sapiens (Q13825), Homo sapiens
Di Rosa, G.; Deodato, F.; Loupatty, F.J.; Rizzo, C.; Carrozzo, R.; Santorelli, F.M.; Boenzi, S.; DAmico, A.; Tozzi, G.; Bertini, E.; Maiorana, A.; Wanders, R.J.; Dionisi-Vici, C.
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria
J. Inherit. Metab. Dis.
29
546-550
2006
Homo sapiens (Q13825), Homo sapiens
Kurimoto, K.; Kuwasako, K.; Sandercock, A.; Unzai, S.; Robinson, C.; Muto, Y.; Yokoyama, S.
AU-rich RNA-binding induces changes in the quaternary structure of AUH
Proteins
75
360-372
2009
Homo sapiens (Q13825), Homo sapiens
Mercimek-Mahmutoglu, S.; Tucker, T.; Casey, B.
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion
Mol. Genet. Metab.
104
410-413
2011
Homo sapiens
