Reference on EC 1.1.1.211 - long-chain-3-hydroxyacyl-CoA dehydrogenase and Organism(s) Homo sapiens
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AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Carpenter, K.; Pollitt, R.J.; Middleton, B.
Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria
Biochem. Biophys. Res. Commun.
183
443 - 448
1992
Homo sapiens
Middleton, B.
The mitochondrial long-chain trifunctional enzyme: 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase and 3-oxoacyl-CoA thiolase
Biochem. Soc. Trans.
22
427-431
1994
Homo sapiens
Carpenter, K.; Pollitt, R.J.; Middleton, B.
A unique, membrane-bound, multifunctional enzyme from human liver mitochondria catalysing three steps of fatty acid beta-oxidation
Biochem. Soc. Trans.
21
35S
1992
Homo sapiens
Jones, P.M.; Butt, Y.M.; Bennett, M.J.
Effects of odd-numbered medium-chain fatty acids on the accumulation of long-chain 3-hydroxy-fatty acids in long-chain L-3-hydroxyacyl CoA dehydrogenase and mitochondrial trifunctional protein deficient skin fibroblasts
Mol. Genet. Metab.
81
96-99
2004
Homo sapiens
Rakheja, D.; Bennett, M.J.; Foster, B.M.; Domiati-Saad, R.; Rogers, B.B.
Evidence for fatty acid oxidation in human placenta, and the relationship of fatty acid oxidation enzyme activities with gestational age
Placenta
23
447-450
2002
Homo sapiens
Gillingham, M.B.; Weleber, R.G.; Neuringer, M.; Connor, W.E.; Mills, M.; van Calcar, S.; Ver Hoeve, J.; Wolff, J.; Harding, C.O.
Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency
Mol. Genet. Metab.
86
124-133
2005
Homo sapiens
Oey, N.A.; den Boer, M.E.; Wijburg, F.A.; Vekemans, M.; Auge, J.; Steiner, C.; Wanders, R.J.; Waterham, H.R.; Ruiter, J.P.; Attie-Bitach, T.
Long-chain fatty acid oxidation during early human development
Pediatr. Res.
57
755-759
2005
Homo sapiens
Law, L.K.; Tang, N.L.; Hui, J.; Ho, C.S.; Ruiter, J.; Fok, T.F.; Wanders, R.J.; Lam, C.W.
A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry
Clin. Chim. Acta
382
25-30
2007
Homo sapiens
Kong, X.F.; Zhang, X.X.; Yu, Y.Y.; Shi, Q.; La, D.D.; Zhu-Ge, C.D.; Deng, L.; Gong, Q.M.; Shen, B.Y.; Peng, C.H.; Li, H.W.
No mutation was found in the alpha-subunit of the mitochondrial tri-functional protein in one patient with severe acute fatty liver of pregnancy and her relatives
J. Gastroenterol. Hepatol.
22
2107-2111
2007
Homo sapiens
Park, H.D.; Kim, S.R.; Ki, C.S.; Lee, S.Y.; Chang, Y.S.; Jin, D.K.; Park, W.S.
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency
Ann. Clin. Lab. Sci.
39
399-404
2009
Homo sapiens
Griffin, A.C.; Strauss, A.W.; Bennett, M.J.; Ernst, L.M.
Mutations in long-chain 3-hydroxyacyl coenzyme A dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition
Pediatr. Dev. Pathol.
15
368-374
2012
Homo sapiens
Malvagia, S.; Haynes, C.A.; Grisotto, L.; Ombrone, D.; Funghini, S.; Moretti, E.; McGreevy, K.S.; Biggeri, A.; Guerrini, R.; Yahyaoui, R.; Garg, U.; Seeterlin, M.; Chace, D.; De Jesus, V.R.; la Marca, G.
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias
Clin. Chim. Acta
450
342-348
2015
Homo sapiens (P40939), Homo sapiens
Polinati, P.P.; Ilmarinen, T.; Trokovic, R.; Hyotylainen, T.; Otonkoski, T.; Suomalainen, A.; Skottman, H.; Tyni, T.
Patient-specific induced pluripotent stem cell-derived RPE cells: understanding the pathogenesis of retinopathy in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Invest. Ophthalmol. Vis. Sci.
56
3371-3382
2015
Homo sapiens (P40939), Homo sapiens
Haglind, C.; Nordenstroem, A.; Ask, S.; von Doebeln, U.; Gustafsson, J.; Stenlid, M.
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast
J. Inherit. Metab. Dis.
38
315-322
2015
Homo sapiens (P40939), Homo sapiens
Erdol, S.; Ture, M.; Baytan, B.; Yakut, T.; Saglam, H.
An unusual case of LCHAD deficiency presenting with a clinical picture of hemophagocytic lymphohistiocytosis: secondary HLH or coincidence?
J. Pediatr. Hematol. Oncol.
38
661-662
2016
Homo sapiens (P40939), Homo sapiens
Anderson, S.; Brooks, S.S.
When the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complex
Neonatal Netw.
32
262-273
2013
Homo sapiens (P40939), Homo sapiens
Stinton, C.; Fraser, H.; Geppert, J.; Johnson, R.; Connock, M.; Johnson, S.; Clarke, A.; Taylor-Phillips, S.
Newborn screening for long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies using acylcarnitines measurement in dried blood spots - a systematic review of test accuracy
Front. Pediatr.
9
606194
2021
Homo sapiens
Khare, T.; Khare, S.; Angdisen, J.J.; Zhang, Q.; Stuckel, A.; Mooney, B.P.; Ridenhour, S.E.; Gitan, R.S.; Hammoud, G.M.; Ibdah, J.A.
Defects in long-chain 3-hydroxy acyl-CoA dehydrogenase lead to hepatocellular carcinoma A novel etiology of hepatocellular carcinoma
Int. J. Cancer
147
1461-1473
2020
Homo sapiens (P40939), Homo sapiens, Mus musculus
