Reference on EC 1.3.8.8 - long-chain acyl-CoA dehydrogenase and Organism(s) Homo sapiens and UniProt Accession P49748
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AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
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
-
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
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, Sus scrofa
Gohil, K.; Jones, D.A.; Edwards, R.H.T.
Fatty acid oxidation in human skeletal muscle mitochondria
Biochem. Soc. Trans.
11
728-729
1983
Homo sapiens
-
Ijlst, L.; Wanders,R.J.A.
A simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblasts
Ann. Clin. Biochem.
30
293-297
1993
Homo sapiens
-
Djordjevic, S.; Dong, Y.; Paschke, R.; Frerman, F.E.; Strauss, A.W.; Kim, J.J.
Identification of the catalytic base in long chain acyl-CoA dehydrogenase
Biochemistry
33
4258-4264
1994
Homo sapiens
Aoyama, T.; Souri, M.; Ushikubo, S.; Kamijo, T.; Yamaguchi, S.; Kelley, R.I.; Rhead, W.J.; Uetake, K.; Tanaka, K.; Hashimoto, T.
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients
J. Clin. Invest.
95
2465-2473
1995
Homo sapiens, Rattus norvegicus
Battaile, K.P.; McBurney, M.; Van Veldhoven, P.P.; Vockley, J.
Human long chain, very long chain and medium chain acyl-CoA dehydrogenases are specific for the S-enantiomer of 2-methylpentadecanoyl-CoA
Biochim. Biophys. Acta
1390
333-338
1998
Homo sapiens
Clark-Taylor, T.; Clark-Taylor, B.E.
Is autism a disorder of fatty acid metabolism? Possible dysfunction of mitochondrial beta-oxidation by long chain acyl-CoA dehydrogenase
Med. Hypotheses
62
970-975
2004
Homo sapiens
Yamada, J.
Long-chain acyl-CoA hydrolase in the brain
Amino Acids
28
273-278
2005
Homo sapiens, Mus musculus, Rattus norvegicus
Oey, N.A.; Ruiter, J.P.N.; Ijlst, L.; Attie-Bitach, T.; Vekemans, M.; Wanders, R.J.A.; Wijburg, F.A.
Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain
Biochem. Biophys. Res. Commun.
346
33-37
2006
Homo sapiens
Djouadi, F.; Aubey, F.; Schlemmer, D.; Ruiter, J.P.N.; Wanders, R.J.A.; Strauss, A.W.; Bastin, J.
Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders
Hum. Mol. Genet.
14
2695-2703
2005
Homo sapiens
Merritt II, J.L.; Matern, D.; Vockley, J.; Daniels, J.; Ngyen, T.V.; Schowalter, D.B.
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase
Mol. Genet. Metab.
88
351-358
2006
Homo sapiens
Gobin-Limballe, S.; Djouadi, F.; Aubey, F.; Olpin, S.; Andresen, B.S.; Yamaguchi, S.; Mandel, H.; Fukao, T.; Ruiter, J.P.; Wanders, R.J.; McAndrew, R.; Kim, J.J.; Bastin, J.
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy
Am. J. Hum. Genet.
81
1133-1143
2007
Homo sapiens (P49748), Homo sapiens
Law, L.K.; Tang, N.L.; Tong, M.K.; Mak, T.W.; Wanders, R.J.; Lam, C.W.
Novel missense mutations in the first Chinese patient with very-long-chain acyl-CoA dehydrogenase deficiency
Clin. Chim. Acta
375
173-174
2007
Homo sapiens (P49748)
McAndrew, R.P.; Wang, Y.; Mohsen, A.W.; He, M.; Vockley, J.; Kim, J.J.
Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase
J. Biol. Chem.
283
9435-9443
2008
Homo sapiens
Zia, A.; Kolodny, E.H.; Pastores, G.M.
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties
J. Inherit. Metab. Dis.
30
817-817
2007
Homo sapiens
Goetzman, E.S.; Wang, Y.; He, M.; Mohsen, A.W.; Ninness, B.K.; Vockley, J.
Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system
Mol. Genet. Metab.
91
138-147
2007
Homo sapiens
Tajima, G.; Sakura, N.; Shirao, K.; Okada, S.; Tsumura, M.; Nishimura, Y.; Ono, H.; Hasegawa, Y.; Hata, I.; Naito, E.; Yamaguchi, S.; Shigematsu, Y.; Kobayashi, M.
Development of a new enzymatic diagnosis method for very-long-chain acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan
Pediatr. Res.
64
667-672
2008
Homo sapiens
Arnold, G.L.; Van Hove, J.; Freedenberg, D.; Strauss, A.; Longo, N.; Burton, B.; Garganta, C.; Ficicioglu, C.; Cederbaum, S.; Harding, C.; Boles, R.G.; Matern, D.; Chakraborty, P.; Feigenbaum, A.
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
Mol. Genet. Metab.
96
85-90
2009
Homo sapiens
Korematsu, S.; Kosugi, Y.; Kumamoto, T.; Yamaguchi, S.; Izumi, T.
Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency
Pediatr. Neurol.
41
151-153
2009
Homo sapiens
ter Veld, F.; Mueller, M.; Kramer, S.; Haussmann, U.; Herebian, D.; Mayatepek, E.; Laryea, M.D.; Primassin, S.; Spiekerkoetter, U.
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns
PLoS ONE
4
e6449
2009
Homo sapiens
