| 1 | ABCC8, HADH, HHF1, HHF2, HHF4, KCNJ11
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| Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation.
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| Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S.
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| Am J Hum Genet 92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27.
2013
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| 2 | HADH, HADHD
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| Novel Insights Into Fatty Acid Oxidation, Amino Acid Metabolism, and Insulin Secretion From Studying Patients With Loss of Function Mutations in 3-Hydroxyacyl-CoA Dehydrogenase.
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| Heslegrave AJ, Hussain K.
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| J Clin Endocrinol Metab 98(2):496-501. doi: 10.1210/jc.2012-3134. Epub 2012 Dec 18.
2013
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| 3 | HADH
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| Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways.
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| Narayan SB, Master SR, Sireci AN, Bierl C, Stanley PE, Li C, Stanley CA, Bennett MJ.
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| PLoS One 7(4):e35048. doi: 10.1371/journal.pone.0035048. Epub 2012 Apr 9.
2012
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| 4 | HADH, HADHD
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| Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
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| Martins E, Cardoso ML, Rodrigues E, Barbot C, Ramos A, Bennett MJ, Teles EL, Vilarinho L.
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| J Inherit Metab Dis 34(3):835-42. doi: 10.1007/s10545-011-9287-7. Epub 2011 Feb 24.
2011
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| 5 | HADH, HHF4
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| Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
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| Flanagan SE, Patch AM, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, Ellard S.
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| J Clin Endocrinol Metab 96(3):E498-502. doi: 10.1210/jc.2010-1906. Epub 2011 Jan 20.
2011
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| 6 | GLUD1, HADH, HHF4, HHF6
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| Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase.
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| Stanley CA.
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| Neurochem Int 59(4):465-72. doi: 10.1016/j.neuint.2010.11.017. Epub 2010 Dec 2. Review.
2011
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| 7 | HADH, HNF4A
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| Congenital hyperinsulinism due to mutations in HNF4A and HADH.
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| Kapoor RR, Heslegrave A, Hussain K.
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| Rev Endocr Metab Disord 11(3):185-91. Review.
2010
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| 8 | GLUD1, HADH
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| Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
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| 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.
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| J Biol Chem 285(41):31806-18. doi: 10.1074/jbc.M110.123638. Epub 2010 Jul 29.
2010
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| 9 | HADH, HADHD
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| Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency.
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| Filling C, Keller B, Hirschberg D, Marschall HU, Jšrnvall H, Bennett MJ, Oppermann U.
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| Biochem Biophys Res Commun 368(1):6-11. Epub 2007 Nov 26. 2008
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| 10 | HADH
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| The HADHSC gene encoding short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) and type 2 diabetes susceptibility: the DAMAGE study.
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| van Hove EC, Hansen T, Dekker JM, Reiling E, Nijpels G, Jørgensen T, Borch-Johnsen K, Hamid YH, Heine RJ, Pedersen O, Maassen JA, 't Hart LM.
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| Diabetes 55(11):3193-6.
2006
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| 11 | HADH, HSD17B10
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| 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
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| Yang SY, He XY, Schulz H.
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| FEBS J 272(19):4874-83. Review. 2005
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| 12 | HADH, HHF5, HHF4
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| Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
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| Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njolstad PR, Jellum E, Sovik O.
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| Diabetes 53(1):221-7. 2004
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| 13 | HADH, HADHD, HHF4, HHF5
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| Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.
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| Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE.
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| J Clin Invest 108(3):457-65. 2001
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| 14 | HADH
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| Characterization and localization of human type10 17beta-hydroxysteroid dehydrogenase.
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| He XY, Merz G, Yang YZ, Mehta P, Schulz H, Yang SY.
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| Eur J Biochem 268(18):4899-907. 2001
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| 15 | HADH
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| Glutamate 170 of human l-3-hydroxyacyl-CoA dehydrogenase is required for proper orientation of the catalytic histidine and structural integrity of the enzyme.
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| Barycki JJ, O'Brien LK, Strauss AW, Banaszak LJ.
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| J Biol Chem 276(39):36718-26. Epub 2001 Jul 12. 2001
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| 16 | HADH
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| Function of human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase in androgen metabolism.
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| He XY, Merz G, Yang YZ, Pullakart R, Mehta P, Schulz H, Yang SY.
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| Biochim Biophys Acta 1484(2-3):267-77. 2000
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| 17 | HADH, HADHSCP
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| Structural organization of the human short-chain l-3-hydroxyacyl-CoA dehydrogenase gene.
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| Vredendaal PJ, van den Berg IE, Stroobants AK, van der A DL, Malingre HE, Berger R.
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| Mamm Genome 9 : 763-768. 1998
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| 18 | HADH
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| Human short-chain L-3-hydroxyacyl-CoA dehydrogenase : cloning and characterization of the coding sequence.
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| Vredendaal PJ, et al.
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| Biochem Biophys Res Commun 223 : 718-723. 1996
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| 19 | HADH
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| A preliminary analysis of the segregation of human hydroxyacyl coenzyme A dehydrogenase in human-mouse somatic cell hybrids.
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| Craig I, Tolley E, Bobrow M.
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| Cytogenet Cell Genet 16(1-5):114-7. No abstract available. 1976
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