Reference on EC 4.1.3.4 - hydroxymethylglutaryl-CoA lyase and Organism(s) Homo sapiens
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
Wysocki, S.J.; Haehnel, R.
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: a review
J. Inherit. Metab. Dis.
9
225-233
1986
Homo sapiens
Ashmarina, L.I.; Robert, M.F.; Elsliger, M.A.; Mitchell, G.A.
Characterization of the hydroxymethylglutaryl-CoA lyase precursor, a protein targeted to peroxisomes and mitochondria
Biochem. J.
315
71-75
1996
Homo sapiens
Mitchell, G.A.; Robert, M.F.; Hruz, P.W.; Wang, S.; Fontaine, G.; Behnke, C.E.; Mende-Mueller, L.M.; Schappert, K.; Lee, C.; Gibson, K.M.; Miziorko, H.M.
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL)
J. Biol. Chem.
268
4376-4381
1993
Gallus gallus, Homo sapiens
Roberts, J.R.; Narasimhan, C.; Hruz, P.W.; Mitchell, G.A.; Miziorko, H.M.
3-Hydroxy-3-methylglutaryl-CoA lyase: expression and isolation of the recombinant human enzyme and investigation of a mechanism for regulation of enzyme activity
J. Biol. Chem.
269
17841-17846
1994
Homo sapiens
Wanders, R.J.A.; Schutgens, R.B.H.; Zoeters, P.H.M.
3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method
Clin. Chim. Acta
171
95-102
1988
Homo sapiens
Tuinstra, R.L.; Burgner, J.W.2nd.; Miziorko, H.M.
Investigation of the oligomeric status of the peroxisomal isoform of human 3-hydroxy-3-methylglutaryl-CoA lyase
Arch. Biochem. Biophys.
408
286-294
2002
Homo sapiens
Tuinstra, R.L.; Wang, C.Z.; Mitchell, G.A.; Miziorko, H.M.
Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: Use of acetyldithio-coenzyme A to monitor product enolization
Biochemistry
43
5287-5295
2004
Homo sapiens
Casals, N.; Gomez-Puertas, P.; Pie, J.; Mir, C.; Roca, R.; Puisac, B.; Aledo, R.; Clotet, J.; Menao, S.; Serra, D.; Asins, G.; Till, J.; Elias-Jones, A.C.; Cresto, J.C.; Chamoles, N.A.; Abdenur, J.E.; Mayatepek, E.; Besley, G.; Valencia, A.; Hegardt, F.G.
Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase
J. Biol. Chem.
278
29016-29023
2003
Homo sapiens
Ashmarina, L.I.; Pshezhetsky, A.V.; Branda, S.S.; Isaya, G.; Mitchell, G.A.
3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria
J. Lipid Res.
40
70-75
1999
Homo sapiens
Puisac, B.; Lopez-Vinas, E.; Moreno, S.; Mir, C.; Perez-Cerda, C.; Menao, S.; Lluch, D.; Pie, A.; Gomez-Puertas, P.; Casals, N.; Ugarte, M.; Hegardt, F.; Pie, J.
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL
Biophys. Chem.
115
241-245
2005
Homo sapiens
Fu, Z.; Runquist, J.A.; Forouhar, F.; Hussain, M.; Hunt, J.F.; Miziorko, H.M.; Kim, J.J.
Crystal structure of human HMG-CoA lyase: Insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria
J. Biol. Chem.
281
7526-7532
2005
Homo sapiens
Cardoso, M.L.; Rodrigues, M.R.; Leao, E.; Martins, E.; Diogo, L.; Rodrigues, E.; Garcia, P.; Rolland, M.O.; Vilarinho, L.
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency
Mol. Genet. Metab.
82
334-338
2004
Homo sapiens
Al-Sayed, M.; Imtiaz, F.; Alsmadi, O.A.; Rashed, M.S.; Meyer, B.F.
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population
BMC Med. Genet.
7
86
2006
Homo sapiens
Mir, C.; Lopez-Vinas, E.; Aledo, R.; Puisac, B.; Rizzo, C.; Dionisi-Vici, C.; Deodato, F.; Pie, J.; Gomez-Puertas, P.; Hegardt, F.G.; Casals, N.
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase
J. Inherit. Metab. Dis.
29
64-70
2006
Homo sapiens (P35914)
Carrasco, P.; Menao, S.; Lopez-Vinas, E.; Santpere, G.; Clotet, J.; Sierra, A.Y.; Gratacos, E.; Puisac, B.; Gomez-Puertas, P.; Hegardt, F.G.; Pie, J.; Casals, N.
C-terminal end and amino acid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity
Mol. Genet. Metab.
91
120-127
2007
Homo sapiens (P35914), Homo sapiens
Pie, J.; Lopez-Vinas, E.; Puisac, B.; Menao, S.; Pie, A.; Casale, C.; Ramos, F.J.; Hegardt, F.G.; Gomez-Puertas, P.; Casals, N.
Molecular genetics of HMG-CoA lyase deficiency
Mol. Genet. Metab.
92
198-209
2007
Homo sapiens (P35914), Homo sapiens
Lin, W.D.; Wang, C.H.; Lai, C.C.; Tsai, Y.; Wu, J.Y.; Chen, C.P.; Tsai, F.J.
Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency
Clin. Chim. Acta
401
33-36
2009
Homo sapiens
Leung, A.A.; Chan, A.K.; Ezekowitz, J.A.; Leung, A.K.
A case of dilated cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) lyase deficiency
Case Report Med.
2009
183125
2009
Homo sapiens
Reimao, S.; Morgado, C.; Almeida, I.T.; Silva, M.; Real, H.C.; Campos, J.
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult
J. Inherit. Metab. Dis.
32
S49-52
2009
Homo sapiens
Montgomery, C.; Miziorko, H.M.
Influence of multiple cysteines on human 3-hydroxy-3-methylglutaryl-CoA lyase activity and formation of inter-subunit adducts
Arch. Biochem. Biophys.
511
48-55
2011
Homo sapiens (P35914), Homo sapiens
Fu, Z.; Runquist, J.A.; Montgomery, C.; Miziorko, H.M.; Kim, J.J.
Functional insights into human HMG-CoA lyase from structures of Acyl-CoA-containing ternary complexes
J. Biol. Chem.
285
26341-26349
2010
Homo sapiens
Puisac, B.; Arnedo, M.; Casale, C.H.; Ribate, M.P.; Castiella, T.; Ramos, F.J.; Ribes, A.; Perez-Cerda, C.; Casals, N.; Hegardt, F.G.; Pie, J.
Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria
J. Inherit. Metab. Dis.
33
405-410
2010
Homo sapiens
Nakagawa, S.; Kojima, Y.; Sekino, K.; Yamato, S.
Effect of polyphenols on 3-hydroxy-3-methylglutaryl-coenzyme A lyase activity in human hepatoma HepG2 cell extracts
Biol. Pharm. Bull.
36
1902-1906
2013
Homo sapiens
