Reference on EC 1.1.1.178 - 3-hydroxy-2-methylbutyryl-CoA dehydrogenase
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REF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Conrad R.S.; Massey L.K.; Sokatch J.R.
D- and L-leucine metabolism and regulation of their pathways in Pseudomonas putida
J. Bacteriol.
4
103-111
1974
Pseudomonas putida, Pseudomonas putida PpG2
Gibson, K.M.; Lee, C.F.; Kamali, V.; Soevik, O.
A coupled assay detecting defects in fibroblasts isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency
Clin. Chim. Acta
205
127-135
1992
Homo sapiens
Luo, M.J.; Mao, L.F.; Schulz, H.
Short-chain 3-hydroxy-2-methylacyl-CoA dehydrogenase from rat liver: purification and characterization of a novel enzyme of isoleucine metabolism
Arch. Biochem. Biophys.
321
214-220
1995
BRENDA: Rattus norvegicus
Textmining: Rattus
Zschocke, J.; Ruiter, J.P.N.; Brand, J.; Lindner, M.; Hoffmann, G.F.; Wanders, R.J.A.; Mayatepek, E.
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism
Pediatr. Res.
48
852-855
2000
Homo sapiens
He, X.Y.; Merz, G.; Mehta, P.; Schulz, H.; Yang, S.Y.
Human brain short chain L-3-hydroxyacyl Coenzyme A dehydrogenase is a singl-domain multifunctional enzyme
J. Biol. Chem.
274
15014-15019
1999
Homo sapiens
Vredendaal, P.J.C.M.; van den Berg, I.E.T.; Malingre, H.E.M.; Stroobants, A.K.; Olde Weghuis, D.E.M.; Berger, R.
Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence
Biochem. Biophys. Res. Commun.
223
718-723
1996
Homo sapiens (Q16836), Homo sapiens, Sus scrofa
Ofman, R.; Ruiter, J.P.; Feenstra, M.; Duran, M.; Poll-The, B.T.; Zschocke, J.; Ensenauer, R.; Lehnert, W.; Sass, J.O.; Sperl, W.; Wanders, R.J.
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene
Am. J. Hum. Genet.
72
1300-1307
2003
Bos taurus, Bos taurus (O02691), Escherichia coli, Homo sapiens, Homo sapiens (Q99714)
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
Garcia-Villoria, J.; Ofman, R.; Sala, P.R.; Merinero, B.; Ramos, J.; Garcia-Silva, M.T.; Beseler, B.; Dalmau, J.; Wanders, R.J.; Ugarte, M.
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease
Pediatr. Res.
58
488-491
2005
Homo sapiens
Yang, S.Y.; He, X.Y.; Schulz, H.
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease
FEBS J.
272
4874-4883
2005
Homo sapiens, Mus musculus, Rattus norvegicus
Garcia-Villoria, J.; Navarro-Sastre, A.; Fons, C.; Perez-Cerda, C.; Baldellou, A.; Fuentes-Castello, M.A.; Gonzalez, I.; Hernandez-Gonzalez, A.; Fernandez, C.; Campistol, J.; Delpiccolo, C.; Cortes, N.; Messeguer, A.; Briones, P.; Ribes, A.
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis
Clin. Biochem.
42
27-33
2009
Homo sapiens
Rauschenberger, K.; Schoeler, K.; Sass, J.O.; Sauer, S.; Djuric, Z.; Rumig, C.; Wolf, N.I.; Okun, J.G.; Koelker, S.; Schwarz, H.; Fischer, C.; Grziwa, B.; Runz, H.; Nuemann, A.; Shafqat, N.; Kavanagh, K.L.; Haemmerling, G.; Wanders, R.J.; Shield, J.P.; Wendel, U.; Stern, D.; Nawroth, P.; Hoffmann, G.F.; Bartram, C.R.
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival
EMBO Mol. Med.
2
51-62
2010
BRENDA: Mus musculus, Xenopus laevis, Homo sapiens (Q99714), Homo sapiens
Textmining: Xenopus, Mus sp.
Schulz, N.; Himmelbauer, H.; Rath, M.; van Weeghel, M.; Houten, S.; Kulik, W.; Suhre, K.; Scherneck, S.; Vogel, H.; Kluge, R.; Wiedmer, P.; Joost, H.G.; Schuermann, A.
Role of medium- and short-chain L-3-hydroxyacyl-CoA dehydrogenase in the regulation of body weight and thermogenesis
Endocrinology
152
4641-4651
2011
Mus sp.
Narayan, S.B.; Master, S.R.; Sireci, A.N.; Bierl, C.; Stanley, P.E.; Li, C.; Stanley, C.A.; Bennett, M.J.
Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways
PLoS ONE
7
e35048
2012
Homo sapiens, Mus musculus
Yang, S.Y.; Dobkin, C.; He, X.Y.; Philipp, M.; Brown, W.T.
A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation
Gene
515
380-384
2013
Homo sapiens (Q99714), Homo sapiens
Vilardo, E; Rossmanith, W
Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Nucleic Acids Res
43
5112-9
2015
Homo sapiens
Vilardo, E; Rossmanith, W
Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Nucleic Acids Res
43
6649
2015
Homo sapiens
He, XY; Yang, YZ; Schulz, H; Yang, SY
Intrinsic alcohol dehydrogenase and hydroxysteroid dehydrogenase activities of human mitochondrial short-chain L-3-hydroxyacyl-CoA dehydrogenase.
Biochem J
345 Pt 1
139-43
2000
Homo sapiens, Dianthus chinensis
Olpin, SE; Pollitt, RJ; McMenamin, J; Manning, NJ; Besley, G; Ruiter, JP; Wanders, RJ
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.
J Inherit Metab Dis
25
477-82
2002
Homo sapiens
Ivell, R; Balvers, M; Anand, RJ; Paust, HJ; McKinnell, C; Sharpe, R
Differentiation-dependent expression of 17beta-hydroxysteroid dehydrogenase, type 10, in the rodent testis: effect of aging in Leydig cells.
Endocrinology
144
3130-7
2003
Rodentia
Hovorkova, P; Kristofikova, Z; Horinek, A; Ripova, D; Majer, E; Zach, P; Sellinger, P; Ricny, J
Lateralization of 17beta-hydroxysteroid dehydrogenase type 10 in hippocampi of demented and psychotic people.
Dement Geriatr Cogn Disord
26
193-8
2008
Homo sapiens
Kristofiková, Z; Bocková, M; Hegnerová, K; Bartos, A; Klaschka, J; RÃcný, J; RÃpová, D; Homola, J
Enhanced levels of mitochondrial enzyme 17beta-hydroxysteroid dehydrogenase type 10 in patients with Alzheimer disease and multiple sclerosis.
Mol Biosyst
5
1174-9
2009
Homo sapiens
Boynton, TO; Shimkets, LJ
Myxococcus CsgA, Drosophila Sniffer, and human HSD10 are cardiolipin phospholipases.
Genes Dev
29
1903-14
2015
Myxococcus, Homo sapiens, Drosophila
Seshadri, A; Alladi, PA
Divergent Expression Patterns of Drp1 and HSD10 in the Nigro-Striatum of Two Mice Strains Based on their MPTP Susceptibility.
Neurotox Res
36
27-38
2019
Mus sp.
Waters, PJ; Lace, B; Buhas, D; Gravel, S; Cyr, D; Boucher, RM; Bernard, G; Lévesque, S; Maranda, B
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
Mol Genet Genomic Med
7
e1000
2019
Homo sapiens
Tyni, T; Paetau, A; Strauss, AW; Middleton, B; Kivelä, T
Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Pediatr Res
56
744-50
2004
Homo sapiens
Barycki, JJ; O'Brien, LK; Birktoft, JJ; Strauss, AW; Banaszak, LJ
Pig heart short chain L-3-hydroxyacyl-CoA dehydrogenase revisited: sequence analysis and crystal structure determination.
Protein Sci
8
2010-8
1999
Sus scrofa, Homo sapiens
He, XY; Yang, YZ; Peehl, DM; Lauderdale, A; Schulz, H; Yang, SY
Oxidative 3alpha-hydroxysteroid dehydrogenase activity of human type 10 17beta-hydroxysteroid dehydrogenase.
J Steroid Biochem Mol Biol
87
191-8
2003
Homo sapiens
He, XY; Wegiel, J; Yang, SY
Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase.
Brain Res
1040
29-35
2005
Homo sapiens, Hippocampus
Shafqat, N; Marschall, HU; Filling, C; Nordling, E; Wu, XQ; Björk, L; Thyberg, J; Mårtensson, E; Salim, S; Jörnvall, H; Oppermann, U
Expanded substrate screenings of human and Drosophila type 10 17beta-hydroxysteroid dehydrogenases (HSDs) reveal multiple specificities in bile acid and steroid hormone metabolism: characterization of multifunctional 3alpha/7alpha/7beta/17beta/20beta/21-HSD.
Biochem J
376
49-60
2003
Homo sapiens, Drosophila, Electron
García-Villoria, J; Gort, L; Madrigal, I; Fons, C; Fernández, C; Navarro-Sastre, A; Milà, M; Briones, P; García-Cazorla, A; Campistol, J; Ribes, A
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17beta-hydroxysteroid dehydrogenase 10 deficiency.
Eur J Hum Genet
2010
Homo sapiens
Su, L; Li, X; Lin, R; Sheng, H; Feng, Z; Liu, L
Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.
Metab Brain Dis
2017
Homo sapiens
Wen, GY; Yang, SY; Kaczmarski, W; He, XY; Pappas, KS
Presence of hydroxysteroid dehydrogenase type 10 in amyloid plaques (APs) of Hsiao's APP-Sw transgenic mouse brains, but absence in APs of Alzheimer's disease brains.
Brain Res
954
115-22
2002
Mus sp.
Yang, SY; He, XY; Miller, D
Hydroxysteroid (17?) dehydrogenase X in human health and disease.
Mol Cell Endocrinol
343
1-6
2011
Homo sapiens, Mus musculus
Amberger, A; Deutschmann, AJ; Traunfellner, P; Moser, P; Feichtinger, RG; Kofler, B; Zschocke, J
17?-Hydroxysteroid dehydrogenase type 10 predicts survival of patients with colorectal cancer and affects mitochondrial DNA content.
Cancer Lett
374
149-55
2016
Homo sapiens
He, XY; Merz, G; Yang, YZ; Pullakart, R; Mehta, P; Schulz, H; Yang, SY
Function of human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase in androgen metabolism.
Biochim Biophys Acta
1484
267-77
2000
Homo sapiens
Haukisalmi, V; Henttonen, H
Description and morphometric variability of Paranoplocephala serrata n. sp. (Cestoda: Anoplocephalidae) in collared lemmings (Dicrostonyx spp., Arvicolinae) from Arctic Siberia and North America.
Syst Parasitol
45
219-31
2000
Paranoplocephala, Acanthidops bairdi
Shekhawat, PS; Yang, HS; Bennett, MJ; Carter, AL; Matern, D; Tamai, I; Ganapathy, V
Carnitine content and expression of mitochondrial beta-oxidation enzymes in placentas of wild-type (OCTN2(+/+)) and OCTN2 Null (OCTN2(-/-)) Mice.
Pediatr Res
56
323-8
2004
Mus musculus
Ashton, FT; Schad, GA
Amphids in Strongyloides stercoralis and other parasitic nematodes.
Parasitol Today
12
187-94
1996
Nematodes, animal
Wilson, K; Busse, JW; Gilchrist, A; Vohra, S; Boon, H; Mills, E
Characteristics of pediatric and adolescent patients attending a naturopathic college clinic in Canada.
Pediatrics
115
e338-43
2005
Homo sapiens
Rosa, RB; Schuck, PF; de Assis, DR; Latini, A; Dalcin, KB; Ribeiro, CA; da C Ferreira, G; Maria, RC; Leipnitz, G; Perry, ML; Filho, CS; Wyse, AT; Wannmacher, CM; Wajner, M
Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats.
J Inherit Metab Dis
28
501-15
2005
Rattus, Homo sapiens
KriÅ¡tofiková, Z; RÃÄný, J; Ort, M; RÃpová, D
Aging and Lateralization of the Rat Brain on a Biochemical Level.
Neurochem Res
2010
Rattus
He, X; Yang, S
Comments on 'significance of developmental expression of amphioxus Branchiostoma belcheri and zebrafish Danio rerio Hsd17b10 in biological and medical research'.
J Fish Biol
74
1689-92
2009
Branchiostoma lanceolatum, Branchiostoma, vertebrata
Leipnitz, G; Seminotti, B; Amaral, AU; Fernandes, CG; Dutra-Filho, CS; Wajner, M
Evidence that 2-methylacetoacetate induces oxidative stress in rat brain.
Metab Brain Dis
25
261-7
2010
Rattus
Seaver, LH; He, XY; Abe, K; Cowan, T; Enns, GM; Sweetman, L; Philipp, M; Lee, S; Malik, M; Yang, SY
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
PLoS One
6
e27348
2011
Homo sapiens
Molven, A; Hollister-Lock, J; Hu, J; Martinez, R; Njølstad, PR; Liew, CW; Weir, G; Kulkarni, RN
The Hypoglycemic Phenotype is Islet Cell-Autonomous in Short-chain Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficient Mice.
Diabetes
2016
Mus sp.
Ng, JY; Garber, A; Luong, M; Cooley, K; Busse, JW
No improvement in disclosure of natural health product use to primary care medical doctors in the last 15 years: A survey of naturopathic patients.
Complement Ther Clin Pract
39
101106
2020
Homo sapiens
Howatt KA;Westra P;Nissen SJ
Ethylene effect on kochia (Kochia scoparia) and emission following dicamba application
Weed Science
54
31-37
2006
Kochia, Bassia scoparia
Deutschmann, AJ; Amberger, A; Zavadil, C; Steinbeisser, H; Mayr, JA; Feichtinger, RG; Oerum, S; Yue, WW; Zschocke, J
Mutation or knock-down of 17?-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
Hum Mol Genet
2014
Homo sapiens
Ensenauer, R; Niederhoff, H; Ruiter, JP; Wanders, RJ; Schwab, KO; Brandis, M; Lehnert, W
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
Ann Neurol
51
656-9
2002
Homo sapiens
Sutton, VR; O'Brien, WE; Clark, GD; Kim, J; Wanders, RJ
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
26
69-71
2003
Homo sapiens
Molven, A; Matre, GE; Duran, M; Wanders, RJ; Rishaug, U; Njølstad, PR; Jellum, E; Søvik, O
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Diabetes
53
221-7
2004
Homo sapiens
Poll-The, BT; Wanders, RJ; Ruiter, JP; Ofman, R; Majoie, CB; Barth, PG; Duran, M
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
Mol Genet Metab
81
295-9
2004
Homo sapiens
Fanton, L; Yappo-Ette, H; Vianey-Saban, C; Malicier, D
Homicide followed by freezing and burning: usefulness of measuring SCHAD (short-chain 3-hydroxyacyl-CoA dehydrogenase) activity.
J Clin Forensic Med
13
339-40
0
Homo sapiens
Cazorla, MR; Verdú, A; Pérez-Cerdá, C; Ribes, A
Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
Pediatr Neurol
36
264-7
2007
Homo sapiens
Froemming, MK; Sames, D
Harnessing functional plasticity of enzymes: a fluorogenic probe for imaging 17beta-HSD10 dehydrogenase, an enzyme involved in Alzheimer's and Parkinson's diseases.
J Am Chem Soc
129
14518-22
2007
Homo sapiens
Jazbutyte, V; Kehl, F; Neyses, L; Pelzer, T
Estrogen receptor alpha interacts with 17beta-hydroxysteroid dehydrogenase type 10 in mitochondria.
Biochem Biophys Res Commun
2009
Rattus
Velasco, K; St-Louis, JL; Hovland, HN; Thompson, N; Ottesen, Å; Choi, MH; Pedersen, L; Njølstad, PR; Arnesen, T; Fjeld, K; Aukrust, I; Myklebust, LM; Molven, A
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
J Inherit Metab Dis
2020
Escherichia coli, Homo sapiens
Eaton, S; Chatziandreou, I; Krywawych, S; Pen, S; Clayton, PT; Hussain, K
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?
Biochem Soc Trans
31
1137-9
2003
Homo sapiens
Yang, SY; He, XY; Schulz, H
Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase.
Trends Endocrinol Metab
16
167-75
0
Homo sapiens
Hardy, OT; Hohmeier, HE; Becker, TC; Manduchi, E; Doliba, NM; Gupta, RK; White, P; Stoeckert, CJ; Matschinsky, FM; Newgard, CB; Kaestner, KH
Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.
Mol Endocrinol
21
765-73
2007
Homo sapiens
Li, C; Chen, P; Palladino, A; Narayan, S; Russell, LK; Sayed, S; Xiong, G; Chen, J; Stokes, D; Butt, YM; Jones, PM; Collins, HW; Cohen, NA; Cohen, AS; Nissim, I; Smith, TJ; Strauss, AW; Matschinsky, FM; Bennett, MJ; Stanley, CA
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
J Biol Chem
285
31806-18
2010
Homo sapiens, Mus sp.
Luís, PB; Ruiter, JP; Ofman, R; Ijlst, L; Moedas, M; Diogo, L; Garcia, P; de Almeida, IT; Duran, M; Wanders, RJ; Silva, MF
Valproic acid utilizes the isoleucine breakdown pathway for its complete ?-oxidation.
Biochem Pharmacol
2011
Homo sapiens
Bennett, MJ; Spotswood, SD; Ross, KF; Comfort, S; Koonce, R; Boriack, RL; IJlst, L; Wanders, RJ
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation.
Pediatr Dev Pathol
2
337-45
0
Homo sapiens
Jones, PM; Quinn, R; Fennessey, PV; Tjoa, S; Goodman, SI; Fiore, S; Burlina, AB; Rinaldo, P; Boriack, RL; Bennett, MJ
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation.
Clin Chem
46
149-55
2000
Homo sapiens
Pritchard, DI; McKean, PG; Schad, GA
An immunological and biochemical comparison of hookworm species.
Parasitol Today
6
154-6
1990
Ancylostoma duodenale, Necator americanus, Ralstonia virus Gerry
Lantz, KA; Kaestner, KH
Winged-helix transcription factors and pancreatic development.
Clin Sci (Lond)
108
195-204
2005
Homo sapiens
Yang, SY; He, XY; Miller, D
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
Mol Genet Metab
92
36-42
0
Homo sapiens
Shah, JH; Maguire, DJ; Brown, D; Cotterill, A
The role of ATP sensitive channels in insulin secretion and the implications in persistent hyperinsulinemic hypoglycaemia of infancy (PHHI).
Adv Exp Med Biol
599
133-8
2007
Homo sapiens
Ortez, C; Villar, C; Fons, C; Duarte, ST; Pérez, A; García-Villoria, J; Ribes, A; Ormazábal, A; Casado, M; Campistol, J; Vilaseca, MA; García-Cazorla, A
Undetectable Levels of CSF Amyloid-? Peptide in a Patient with 17?-Hydroxysteroid Dehydrogenase Deficiency.
J Alzheimers Dis
2011
Homo sapiens
Carlson, EA; Marquez, RT; Du, F; Wang, Y; Xu, L; Yan, SS
Overexpression of 17?-hydroxysteroid dehydrogenase type 10 increases pheochromocytoma cell growth and resistance to cell death.
BMC Cancer
15
166
2015
Homo sapiens, Mus musculus
Mahdavi, SM; Latifi, M; Asadi, M
A new species of Phyllotetranychus (Acari: Tenuipalpidae) from Iran.
Zootaxa
4565
zootaxa.4565.4.10
2019
Washingtonia filifera
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