Reference on EC 1.3.8.7 - medium-chain acyl-CoA dehydrogenase and Organism(s) Homo sapiens
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AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Finocchiaro, G.; Ito, M.; Tanaka, K.
Purification and properties of short chain acyl-CoA, medium chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver
J. Biol. Chem.
262
7982-7989
1987
Homo sapiens
Chalmers, R.A.; English, N.
Fatty acid oxidation in cultured skin fibroblasts from patients with inherited disorders of fatty acid metabolism: studies on the specificity of acyl-CoA dehydrogenases
Biochem. Soc. Trans.
15
489-491
1987
Homo sapiens
-
Matsubara, Y.; Kraus, J.P.; Yang-Feng, T.L.; Francke, U.; Rosenberg, L.E.; Tanaka, K.
Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1
Proc. Natl. Acad. Sci. USA
83
6543-6547
1986
Homo sapiens
Bross, P.; Jensen, T.G.; Andresen, B.S.; Kjeldsen, M.; Nandy, A.; Kolvraa, S.; Ghisla, S.; Rasched, I.; Bolund, L.; Gregersen, N.
Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis: evidence for post-translational modification of the enzyme
Biochem. Med. Metab. Biol.
52
36-44
1994
Homo sapiens
Peterson, K.L.; Sergienko, E.E.; Wu, Y.; Kumar, N.R.; Strauss, A.W.; Oleson, A.E.; Muhonen, W.W.; Shabb, J.B.; Srivastava, D.K.
Recombinant human liver medium-chain acyl-CoA dehydrogenase: purification, characterization, and the mechanism of interactions with functionally diverse C8-CoA molecules
Biochemistry
34
14942-14953
1995
Homo sapiens, Sus scrofa
Lee, H.J.; Wang, M.; Paschke, R.; Nandy, A.; Ghisla, S.; Kim, J.J.
Crystal structures of the wild type and the Glu376Gly/Thr255Glu mutant of human medium-chain acyl-CoA dehydrogenase: influence of the location of the catalytic base on substrate specificity
Biochemistry
35
12412-12420
1996
Homo sapiens, Sus scrofa
Nandy, A.; Kieweg, V.; Kraeutle, F.G.; Vock, P.; Kuechler, B.; Bross, P.; Kim, J.J.P.; Rasched, I.; Ghisla, S.
Medium-long-chain chimeric human acyl-CoA dehydrogenase: medium-chain enzyme with the active center base arrangement of long-chain acyl-CoA dehydrogenase
Biochemistry
35
12402-12411
1996
Homo sapiens
Kieweg, V.; Krautle, F.G.; Nandy, A.; Engst, S.; Vock, P.; Abdel-Ghany, A.G.; Bross, P.; Gregersen, N.; Rasched, I.; Strauss, A.; Ghisla, S.
Biochemical characterization of purified, human recombinant Lys304-->Glu medium-chain acyl-CoA dehydrogenase containing the common disease-causing mutation and comparison with the normal enzyme
Eur. J. Biochem.
246
548-556
1997
Homo sapiens, Sus scrofa
Eder, M.; Krautle, F.; Dong, Y.; Vock, P.; Kieweg, V.; Kim, J.J.; Strauss, A.W.; Ghisla, S.
Characterization of human and pig kidney long-chain-acyl-CoA dehydrogenases and their role in beta-oxidation
Eur. J. Biochem.
245
600-607
1997
Homo sapiens
Kuchler, B.; Abdel-Ghany, A.G.; Bross, P.; Nandy, A.; Rasched, I.; Ghisla, S.
Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site
Biochem. J.
337
225-230
1999
Homo sapiens
Gopalan, K.V.; Srivastava, D.K.
Beyond the proton abstracting role of Glu-376 in medium-chain acyl-CoA dehydrogenase: influence of Glu-376-->Gln substitution on ligand binding and catalysis
Biochemistry
41
4638-4648
2002
Homo sapiens
Nasser, I.; Mohsen, A.W.; Jelesarov, I.; Vockley, J.; Macheroux, P.; Ghisla, S.
Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability
Biochim. Biophys. Acta
1690
22-32
2004
Homo sapiens
Ensenauer, R.; He, M.; Willard, J.M.; Goetzman, E.S.; Corydon, T.J.; Vandahl, B.B.; Mohsen, A.W.; Isaya, G.; Vockley, J.
Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids
J. Biol. Chem.
280
32309-32316
2005
Homo sapiens
Maegawa, G.H.; Poplawski, N.K.; Andresen, B.S.; Olpin, S.E.; Nie, G.; Clarke, J.T.; Teshima, I.
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay
Am. J. Med. Genet. A
146A
1581-1586
2008
Homo sapiens
Nichols, M.J.; Saavedra-Matiz, C.A.; Pass, K.A.; Caggana, M.
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population
Am. J. Med. Genet. A
146A
610-619
2008
Homo sapiens
Gradinaru, R.; Schowen, R.; Ghisla, S.
Solvent isotope effects in reactions of human medium-chain acyl-CoA dehydrogenase active site mutants
Biochemistry
46
2497-2509
2007
Homo sapiens
Tran, K.; Banerjee, S.; Li, H.; Noorani, H.Z.; Mensinkai, S.; Dooley, K.
Clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry
Clin. Biochem.
40
235-241
2007
Homo sapiens
Ho, S.; Lukacs, Z.; Hoffmann, G.F.; Lindner, M.; Wetter, T.
Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
Clin. Chem.
53
1330-1337
2007
Homo sapiens
Derks, T.G.; Boer, T.S.; van Assen, A.; Bos, T.; Ruiter, J.; Waterham, H.R.; Niezen-Koning, K.E.; Wanders, R.J.; Rondeel, J.M.; Loeber, J.G.; Ten Kate, L.P.; Smit, G.P.; Reijngoud, D.J.
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency
J. Inherit. Metab. Dis.
31
88-96
2008
Homo sapiens
Cyriac, J.; Venkatesh, V.; Gupta, C.
A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency
J. Int. Med. Res.
36
609-610
2008
Homo sapiens
Wilcken, B.; Haas, M.; Joy, P.; Wiley, V.; Chaplin, M.; Black, C.; Fletcher, J.; McGill, J.; Boneh, A.
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study
Lancet
369
37-42
2007
Homo sapiens
Hsu, H.W.; Zytkovicz, T.H.; Comeau, A.M.; Strauss, A.W.; Marsden, D.; Shih, V.E.; Grady, G.F.; Eaton, R.B.
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening
Pediatrics
121
e1108-e1114
2008
Homo sapiens
Yokoi, K.; Ito, T.; Maeda, Y.; Nakajima, Y.; Ueta, A.; Nomura, T.; Koyama, N.; Kato, I.; Suzuki, S.; Kurono, Y.; Sugiyama, N.; Togari, H.
Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency
Tohoku J. Exp. Med.
213
351-359
2007
Homo sapiens
Horn, M.P.; Maeder-Heinemann, G.; Andrey, G.; Largiader, C.R.
Mutation screening of the medium-chain acyl-CoA dehydrogenase (MCAD) and the ornithine transcarbamylase (OTC) genes by multiplex PCR amplification and sequencing
Clin. Chem. Lab. Med.
47
56-59
2009
Homo sapiens
Ferreira, A.C.; Orlandi, M.P.; Oliveira, V.C.; Malta, F.S.; Caxito, F.A.; Gomes, K.B.; Valadares, E.R.; Godard, A.L.
A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil
Genet. Mol. Res.
8
487-493
2009
Homo sapiens
Purevsuren, J.; Kobayashi, H.; Hasegawa, Y.; Mushimoto, Y.; Li, H.; Fukuda, S.; Shigematsu, Y.; Fukao, T.; Yamaguchi, S.
A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD
Mol. Genet. Metab.
96
77-79
2009
Homo sapiens
Sturm, M.; Herebian, D.; Mueller, M.; Laryea, M.D.; Spiekerkoetter, U.
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants
PLoS ONE
7
e45110
2012
Homo sapiens
Bonito, C.A.; Leandro, P.; Ventura, F.V.; Guedes, R.C.
Insights into medium-chain acyl-CoA dehydrogenase structure by molecular dynamics simulations
Chem. Biol. Drug Des.
88
281-292
2016
Homo sapiens (P11310), Homo sapiens, Sus scrofa (P41367), Sus scrofa
Koster, K.L.; Sturm, M.; Herebian, D.; Smits, S.H.; Spiekerkoetter, U.
Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants
J. Inherit. Metab. Dis.
37
917-928
2014
Homo sapiens (P11310), Homo sapiens
Touw, C.M.; Smit, G.P.; Niezen-Koning, K.E.; Bosgraaf-de Boer, C.; Gerding, A.; Reijngoud, D.J.; Derks, T.G.
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
Orphanet J. Rare Dis.
8
43
2013
Homo sapiens
Jank, J.M.; Maier, E.M.; Reiss, D.D.; Haslbeck, M.; Kemter, K.F.; Truger, M.S.; Sommerhoff, C.P.; Ferdinandusse, S.; Wanders, R.J.; Gersting, S.W.; Muntau, A.C.
The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase
PLoS ONE
9
e93852
2014
Homo sapiens (P11310), Homo sapiens
