Reference on EC 1.3.8.1 - short-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
Nguyen, T.V.; Riggs, C.; Babovic-Vuksanovic, D.; Kim, Y.S.; Carpenter, J.F.; Burghardt, T.P.; Gregersen, N.; Vockley, J.
Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme
Biochemistry
41
11126-11133
2002
Homo sapiens
Holm, D.A.; Dagnaes-Hansen, F.; Simonsen, H.; Gregersen, N.; Bolund, L.; Jensen, T.G.; Corydon, T.J.
Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer
Mol. Genet. Metab.
78
250-258
2003
Homo sapiens
Saenger, A.K.; Nguyen, T.V.; Vockley, J.; Stankovich, M.T.
Biochemical and electrochemical characterization of two variant human short-chain acyl-CoA dehydrogenases
Biochemistry
44
16035-16042
2005
Homo sapiens
Saenger, A.K.; Nguyen, T.V.; Vockley, J.; Stankovich, M.T.
Thermodynamic regulation of human short-chain acyl-CoA dehydrogenase by substrate and product binding
Biochemistry
44
16043-16053
2005
Homo sapiens
Goetzman, E.S.; He, M.; Nguyen, T.V.; Vockley, J
Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism
Mol. Genet. Metab.
87
233-242
2006
Homo sapiens
Pedersen, C.B.; Kolvraa, S.; Kolvraa, A.; Stenbroen, V.; Kjeldsen, M.; Ensenauer, R.; Tein, I.; Matern, D.; Rinaldo, P.; Vianey-Saban, C.; Ribes, A.; Lehnert, W.; Christensen, E.; Corydon, T.J.; Andresen, B.S.; Vang, S.; Bolund, L.; Vockley, J.; Bross, P.; Gregersen, N.
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level
Hum. Genet.
124
43-56
2008
Homo sapiens
Giurgiutiu, D.V.; Espinoza, L.M.; Wood, T.C.; DuPont, B.R.; Holden, K.R.
Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant
J. Child Neurol.
23
112-117
2008
Homo sapiens
Kragh, P.M.; Pedersen, C.B.; Schmidt, S.P.; Winter, V.S.; Vajta, G.; Gregersen, N.; Bolund, L.; Corydon, T.J.
Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice
Mol. Genet. Metab.
91
128-137
2007
Homo sapiens
Tein, I.; Elpeleg, O.; Ben-Zeev, B.; Korman, S.H.; Lossos, A.; Lev, D.; Lerman-Sagie, T.; Leshinsky-Silver, E.; Vockley, J.; Berry, G.T.; Lamhonwah, A.M.; Matern, D.; Roe, C.R.; Gregersen, N.
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
Mol. Genet. Metab.
93
179-189
2008
Homo sapiens
Waisbren, S.E.; Levy, H.L.; Noble, M.; Matern, D.; Gregersen, N.; Pasley, K.; Marsden, D.
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
Mol. Genet. Metab.
95
39-45
2008
Homo sapiens
Battisti, C.; Forte, F.; Molinelli, M.; Funghini, S.; Pasquini, E.; Tassini, M.; Dotti, M.T.; Federico, A.
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies
Neurol. Sci.
28
328-330
2007
Homo sapiens
Jethva, R.; Bennett, M.J.; Vockley, J.
Short-chain acyl-coenzyme A dehydrogenase deficiency
Mol. Genet. Metab.
95
195-200
2008
Homo sapiens
Stagi, S.; Gasperini, S.; Manoni, C.; Greco, A.; Funghini, S.; Donati, A.
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain acylCoA dehydrogenase deficiency
Horm. Res. Paediatr.
73
409-413
2010
Homo sapiens
Shirao, K.; Okada, S.; Tajima, G.; Tsumura, M.; Hara, K.; Yasunaga, S.; Ohtsubo, M.; Hata, I.; Sakura, N.; Shigematsu, Y.; Takihara, Y.; Kobayashi, M.
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency
Hum. Genet.
127
619-628
2010
Homo sapiens (D4QEZ8)
van Maldegem, B.T.; Wanders, R.J.; Wijburg, F.A.
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency
J. Inherit. Metab. Dis.
33
507-511
2010
Homo sapiens
Schmidt, S.P.; Corydon, T.J.; Pedersen, C.B.; Bross, P.; Gregersen, N.
Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress
Mol. Genet. Metab.
100
155-162
2010
Homo sapiens
Pena, L.; Angle, B.; Burton, B.; Charrow, J.
Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one centers experience
Genet. Med.
14
342-347
2012
Homo sapiens
Pepin, E.; Guay, C.; Delghingaro-Augusto, V.; Joly, E.; Madiraju, S.R.; Prentki, M.
Short-chain 3-hydroxyacyl-CoA dehydrogenase is a negative regulator of insulin secretion in response to fuel and non-fuel stimuli in INS832/13 beta-cells
J. Diabetes
2
157-167
2010
Homo sapiens
Schmidt, S.P.; Corydon, T.J.; Pedersen, C.B.; Vang, S.; Palmfeldt, J.; Stenbroen, V.; Wanders, R.J.; Ruiter, J.P.; Gregersen, N.
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase
J. Inherit. Metab. Dis.
34
465-475
2011
Homo sapiens
