Gene Symbol: HSD17B10
Description: hydroxysteroid 17-beta dehydrogenase 10
Alias: 17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, HSD10MD, MHBD, MRPP2, MRX17, MRX31, MRXS10, SCHAD, SDR5C1, 3-hydroxyacyl-CoA dehydrogenase type-2, 3-hydroxy-2-methylbutyryl-CoA dehydrogenase, AB-binding alcohol dehydrogenase, amyloid-beta peptide binding alcohol dehydrogenase, endoplasmic reticulum-associated amyloid beta-peptide-binding protein, mitochondrial RNase P subunit 2, mitochondrial ribonuclease P protein 2, short chain L-3-hydroxyacyl-CoA dehydrogenase type 2, short chain type dehydrogenase/reductase XH98G2
Species: human
Products:     HSD17B10

Top Publications

  1. Vredendaal P, van den Berg I, Malingre H, Stroobants A, Olde Weghuis D, Berger R. Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence. Biochem Biophys Res Commun. 1996;223:718-23 pubmed
    The cDNA encompassing the complete coding sequence of human liver short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) was isolated and characterized...
  2. Holzmann J, Frank P, Löffler E, Bennett K, Gerner C, Rossmanith W. RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme. Cell. 2008;135:462-74 pubmed publisher
    ..Apparently, animal mitochondria lost the seemingly ubiquitous RNA world remnant after reinventing RNase P from preexisting components. ..
  3. 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;384:450-4 pubmed publisher
    ..These findings suggest that the ERalpha estrogen receptor might be involved in regulating intracellular estrogen levels by modulating 17beta-HSD10 activity. ..
  4. Lustbader J, Cirilli M, Lin C, Xu H, Takuma K, Wang N, et al. ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease. Science. 2004;304:448-52 pubmed
    ..Here, we demonstrate that Abeta-binding alcohol dehydrogenase (ABAD) is a direct molecular link from Abeta to mitochondrial toxicity...
  5. Yan S, Fu J, Soto C, Chen X, Zhu H, Al Mohanna F, et al. An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease. Nature. 1997;389:689-95 pubmed
    ..It binds an intracellular polypeptide known as ERAB, thought to be a hydroxysteroid dehydrogenase enzyme, which is expressed in normal tissues, but is overexpressed in ..
  6. Kristofikova Z, Bocková M, Hegnerová K, Bartos A, Klaschka J, Ricny J, et al. Enhanced levels of mitochondrial enzyme 17beta-hydroxysteroid dehydrogenase type 10 in patients with Alzheimer disease and multiple sclerosis. Mol Biosyst. 2009;5:1174-9 pubmed publisher
    ..In patients with multiple sclerosis, our results are the first to demonstrate significant changes in enzyme expression and to suggest possible alterations in amyloid beta peptides. ..
  7. Marques A, Antunes A, Fernandes P, Ramos M. Comparative evolutionary genomics of the HADH2 gene encoding Abeta-binding alcohol dehydrogenase/17beta-hydroxysteroid dehydrogenase type 10 (ABAD/HSD10). BMC Genomics. 2006;7:202 pubmed
    ..Here we use comparative genomic analyses to study the evolution of the HADH2 gene encoding ABAD/HSD10 across several eukaryotic species...
  8. He X, Wegiel J, Yang S. Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase. Brain Res. 2005;1040:29-35 pubmed
    ..The elevated level of 17beta-HSD10 in activated astrocytes is a new feature found in brains of people with AD, and it may have important impact on AD pathogenesis. ..
  9. Takuma K, Yao J, Huang J, Xu H, Chen X, Luddy J, et al. ABAD enhances Abeta-induced cell stress via mitochondrial dysfunction. FASEB J. 2005;19:597-8 pubmed
    Amyloid-beta peptide (Abeta) binding alcohol dehydrogenase (ABAD), an enzyme present in neuronal mitochondria, is a cofactor facilitating Abeta-induced cell stress...

More Information


  1. Shafqat N, Marschall H, Filling C, Nordling E, Wu X, Björk L, et al. 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. Biochem J. 2003;376:49-60 pubmed
  2. Yang S, Dobkin C, He X, Philipp M, Brown W. A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation. Gene. 2013;515:380-4 pubmed publisher
    ..of hydroxysteroid (17?) dehydrogenase X (HSD10) deficiency are due to a missense C>T mutation in exon 4 of the HSD17B10 gene. The resulting HSD10 (p...
  3. Furuta S, Kobayashi A, Miyazawa S, Hashimoto T. Cloning and expression of cDNA for a newly identified isozyme of bovine liver 3-hydroxyacyl-CoA dehydrogenase and its import into mitochondria. Biochim Biophys Acta. 1997;1350:317-24 pubmed
  4. Lenski C, Kooy R, Reyniers E, Loessner D, Wanders R, Winnepenninckx B, et al. The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. Am J Hum Genet. 2007;80:372-7 pubmed
    ..with a unique clinical phenotype characterized by mild mental retardation, choreoathetosis, and abnormal behavior (MRXS10). Linkage analysis in this family revealed a candidate region of 13...
  5. Ofman R, Ruiter J, Feenstra M, Duran M, Poll The B, Zschocke J, et al. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet. 2003;72:1300-7 pubmed
    ..This led to the identification of the X-chromosomal gene involved, which previously had been denoted "HADH2." Sequence analysis of the HADH2 gene from patients with MHBD deficiency revealed the presence of two ..
  6. Jernberg E, Thysell E, Bovinder Ylitalo E, Rudolfsson S, Crnalic S, Widmark A, et al. Characterization of prostate cancer bone metastases according to expression levels of steroidogenic enzymes and androgen receptor splice variants. PLoS ONE. 2013;8:e77407 pubmed publisher
    ..Significantly higher levels of SRD5A1, AKR1C2, AKR1C3, and HSD17B10 mRNA were however found in bone metastases than in non-malignant and/or malignant prostate tissue, while the ..
  7. He X, Schulz H, Yang S. A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to an amyloid beta-peptide-binding protein involved in Alzheimer's disease. J Biol Chem. 1998;273:10741-6 pubmed
    ..of this human brain enzyme is identical to that of an endoplasmic reticulum amyloid beta-peptide-binding protein (ERAB), which mediates neurotoxicity in Alzheimer's disease (Yan, S. D., Fu, J., Soto, C., Chen, X., Zhu, H...
  8. Miller A, Willard H. Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation. Proc Natl Acad Sci U S A. 1998;95:8709-14 pubmed
    ..Genes located both distal and proximal to this cluster are subject to inactivation, thereby defining a unique multigene domain on the proximal short arm that is transcriptionally active on the inactive X chromosome. ..
  9. Oppermann U, Salim S, Tjernberg L, Terenius L, Jornvall H. Binding of amyloid beta-peptide to mitochondrial hydroxyacyl-CoA dehydrogenase (ERAB): regulation of an SDR enzyme activity with implications for apoptosis in Alzheimer's disease. FEBS Lett. 1999;451:238-42 pubmed
    The intracellular amyloid beta-peptide (A beta) binding protein, ERAB, a member of the short-chain dehydrogenase/reductase (SDR) family, is known to mediate apoptosis in different cell lines and to be a class II hydroxyacyl-CoA ..
  10. Kissinger C, Rejto P, Pelletier L, Thomson J, Showalter R, Abreo M, et al. Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics. J Mol Biol. 2004;342:943-52 pubmed
    ..dehydrogenase type 10 (HSD10), also known as amyloid beta-peptide-binding alcohol dehydrogenase (ABAD), has been implicated in the development of Alzheimer's disease...
  11. He X, Merz G, Mehta P, Schulz H, Yang S. Human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase is a single-domain multifunctional enzyme. Characterization of a novel 17beta-hydroxysteroid dehydrogenase. J Biol Chem. 1999;274:15014-9 pubmed
    Human brain short chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) was found to catalyze the oxidation of 17beta-estradiol and dihydroandrosterone as well as alcohols...
  12. Yan S, Shi Y, Zhu A, Fu J, Zhu H, Zhu Y, et al. Role of ERAB/L-3-hydroxyacyl-coenzyme A dehydrogenase type II activity in Abeta-induced cytotoxicity. J Biol Chem. 1999;274:2145-56 pubmed
    Endoplasmic reticulum-associated amyloid beta-peptide (Abeta)-binding protein (ERAB)/L-3-hydroxyacyl-CoA dehydrogenase type II (HADH II) is expressed at high levels in Alzheimer's disease (AD)-affected brain, binds Abeta, and contributes ..
  13. Garcia Villoria J, Gort L, Madrigal I, Fons C, Fernandez C, Navarro Sastre A, et al. X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17?-hydroxysteroid dehydrogenase 10 deficiency. Eur J Hum Genet. 2010;18:1353-5 pubmed publisher
    ..The gene encoding HSD10, HSD17B10, has been reported as one of the few genes that escapes X-inactivation...
  14. He X, Merz G, Yang Y, Mehta P, Schulz H, Yang S. Characterization and localization of human type10 17beta-hydroxysteroid dehydrogenase. Eur J Biochem. 2001;268:4899-907 pubmed
    ..studies demonstrate that this protein, which has been referred to as ER-associated amyloid beta-binding protein (ERAB), is not detectable in the ER of normal tissues...
  15. Yang S, He X, Miller D. HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. Mol Genet Metab. 2007;92:36-42 pubmed
    The HSD17B10 gene maps on chromosome Xp11.2, a region highly associated with X-linked mental retardation...
  16. Rotinen M, Villar J, Celay J, Encio I. Type 10 17?-hydroxysteroid dehydrogenase expression is regulated by C/EBP? in HepG2 cells. J Steroid Biochem Mol Biol. 2010;122:164-71 pubmed publisher
    ..C/EBP? or C/EBP? in HepG2 cells showed that HSD17B11 expression was induced by both transcription factors while HSD17B10 expression was only induced by C/EBP?...
  17. Rauschenberger K, Schöler K, Sass J, Sauer S, Djuric Z, Rumig C, et al. A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med. 2010;2:51-62 pubmed publisher
    ..The disease-causing gene is HSD17B10 and encodes 17beta-hydroxysteroid dehydrogenase type 10 (HSD10), a protein also implicated in the pathogenesis of ..
  18. He X, Wen G, Merz G, Lin D, Yang Y, Mehta P, et al. Abundant type 10 17 beta-hydroxysteroid dehydrogenase in the hippocampus of mouse Alzheimer's disease model. Brain Res Mol Brain Res. 2002;99:46-53 pubmed
    ..reticulum as suggested by its trivial name 'endoplasmic reticulum-associated amyloid-beta biding protein (ERAB)'...
  19. Salas S, Jezequel P, Campion L, Deville J, Chibon F, Bartoli C, et al. Molecular characterization of the response to chemotherapy in conventional osteosarcomas: predictive value of HSD17B10 and IFITM2. Int J Cancer. 2009;125:851-60 pubmed publisher
    ..Fluorescent in situ hybridization was performed for RPL8 gene. We have found that HSD17B10 gene expression was up-regulated in poor responders and that immunohistochemistry expression of HSD17B10 on ..
  20. Yang S, He X, Olpin S, SUTTON V, McMenamin J, Philipp M, et al. Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. Proc Natl Acad Sci U S A. 2009;106:14820-4 pubmed publisher
    Mutations in the HSD17B10 gene were identified in two previously described mentally retarded males. A point mutation c.776G>C was found from a survivor (SV), whereas a potent mutation, c...
  21. Seo J, Lee K, Kim T, Baek I, Im J, Han P. Behavioral stress causes mitochondrial dysfunction via ABAD up-regulation and aggravates plaque pathology in the brain of a mouse model of Alzheimer disease. Free Radic Biol Med. 2011;50:1526-35 pubmed publisher
    ..corticosterone) and A? in SH-SY5Y cells increased the expression of 17?-hydroxysteroid dehydrogenase (ABAD), mitochondrial dysfunction, and levels of ROS, whereas blockade of ABAD expression by siRNA-ABAD in SH-SY5Y cells ..
  22. Vilardo E, Nachbagauer C, Buzet A, Taschner A, Holzmann J, Rossmanith W. A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis. Nucleic Acids Res. 2012;40:11583-93 pubmed publisher
    ..Human mitochondrial RNase P, thus, constitutes a multifunctional complex, whose subunits moonlight in cascade: a fatty and amino acid degradation enzyme in tRNA methylation and the methyltransferase, in turn, in tRNA 5' end processing. ..
  23. He X, Yang Y, Peehl D, Lauderdale A, Schulz H, Yang S. Oxidative 3alpha-hydroxysteroid dehydrogenase activity of human type 10 17beta-hydroxysteroid dehydrogenase. J Steroid Biochem Mol Biol. 2003;87:191-8 pubmed
    ..The experimental results lead to the conclusion that mitochondrial 17beta-HSD10 plays a significant part in a non-classical androgen synthesis pathway along with microsomal retinol dehydrogenases. ..
  24. Redfield R, Ellis T, Zhong W, Scalea J, Zens T, Mandelbrot D, et al. Current outcomes of chronic active antibody mediated rejection - A large single center retrospective review using the updated BANFF 2013 criteria. Hum Immunol. 2016;77:346-52 pubmed publisher
    ..standardized and complete serologic and histopathologic diagnosis of chronic active antibody mediated rejection (cAMR). Little data exists on the outcomes of cAMR since the initiation of this updated criteria...
  25. Iwasaki K, Yamamoto T, Inanaga Y, Hiramitsu T, Miwa Y, Murotani K, et al. MiR-142-5p and miR-486-5p as biomarkers for early detection of chronic antibody-mediated rejection in kidney transplantation. Biomarkers. 2017;22:45-54 pubmed publisher
    De novo donor-specific HLA antibody (DSA) would not necessarily contribute to chronic antibody-mediated rejection (CAMR) in kidney transplantation. Here, we investigated whether PBMC miRNAs could be predictable biomarkers for CAMR...
  26. Demir E, Yegit O, Erol A, Akgul S, Caliskan B, Bayraktar A, et al. Relevance of Flow Cytometric Auto-Crossmatch to the Post-transplant Course of Kidney Transplant Recipients. Transplant Proc. 2017;49:477-480 pubmed publisher
    ..Secondary endpoints were incidence of biopsy-confirmed chronic antibody-mediated rejection (CAMR) and recurrent glomerulonephritis (GN)...
  27. Runowski D, Prokurat S, Rubik J, Grenda R. Therapeutic Plasma Exchange in Pediatric Renal Transplantation Experience of One Decade and 389 Sessions. Transplant Proc. 2018;50:3483-3486 pubmed publisher
    ..syndrome (NS; n = 30) and atypical hemolytic uremic syndrome (n = 6), chronic antibody-mediated rejection (cAMR; n = 20), sensitization (n = 2), and immune thrombocytopenia (n = 1)...
  28. Hovorkova P, Kristofikova Z, Horinek A, Ripova D, Majer E, Zach P, et al. Lateralization of 17beta-hydroxysteroid dehydrogenase type 10 in hippocampi of demented and psychotic people. Dement Geriatr Cogn Disord. 2008;26:193-8 pubmed publisher
    ..Overexpression of the enzyme could be used to distinguish Alzheimer disease from multi-infarct dementia. ..
  29. Marlu R, Malvezzi P, Seyve L, Jouve T, Maurizi J, Defendi F, et al. Effect of double-filtration plasmapheresis for antibody-mediated rejection on hemostasis parameters and thrombin generation. Thromb Res. 2018;166:113-121 pubmed publisher
    Donor-specific alloantibodies (DSAs) cause kidney-allograft loss in chronic antibody-mediated rejection (CAMR). Treatment relies on blocking antibody-producing cells and removing DSAs by apheresis: e.g...
  30. Yang J, Zou M, Pezoldt J, Zhou X, Huehn J. Thymus-derived Foxp3+ regulatory T cells upregulate RORγt expression under inflammatory conditions. J Mol Med (Berl). 2018;96:1387-1394 pubmed publisher
    ..In addition, genuine tTregs isolated from thymi of Foxp3hCD2RAGGFP reporter mice initiated RORγt expression both in vitro and in vivo, particularly under ..
  31. Oerum S, Roovers M, Rambo R, Kopec J, Bailey H, Fitzpatrick F, et al. Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes. J Biol Chem. 2018;293:12862-12876 pubmed publisher
    ..mitochondrial RNase P subunit (TRMT10C/MRPP1), short-chain oxidoreductase hydroxysteroid 17β-dehydrogenase 10 (HSD17B10/MRPP2), and metallonuclease KIAA0391/MRPP3...
  32. Murakami Y, Ohsawa I, Kasahara T, Ohta S. Cytoprotective role of mitochondrial amyloid beta peptide-binding alcohol dehydrogenase against a cytotoxic aldehyde. Neurobiol Aging. 2009;30:325-9 pubmed
    Recent reports on amyloid beta peptide (A beta) binding-alcohol dehydrogenase (ABAD) have revealed the link of A beta with oxidative stress derived from mitochondria in the pathogenesis of Alzheimer's disease (AD)...
  33. Roders N, Herr F, Ambroise G, Thaunat O, Portier A, Vazquez A, et al. SYK Inhibition Induces Apoptosis in Germinal Center-Like B Cells by Modulating the Antiapoptotic Protein Myeloid Cell Leukemia-1, Affecting B-Cell Activation and Antibody Production. Front Immunol. 2018;9:787 pubmed publisher
    ..During chronic AMR (cAMR), tertiary lymphoid structures resembling GCs appear in the rejected organ, suggesting local lymphoid neogenesis...
  34. Faure E, Canaud L, Marty Ané C, Becquemin J, Alric P. Endovascular management of rupture in acute type B aortic dissections. Eur J Vasc Endovasc Surg. 2015;49:655-660 pubmed publisher
    Reports of thoracic endovascular aortic repair (TEVAR) for complicated acute type B aortic dissection (ABAD) bring together a large range of clinical presentations...
  35. Oerum S, Roovers M, Leichsenring M, Acquaviva Bourdain C, Beermann F, Gemperle Britschgi C, et al. Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein. Biochim Biophys Acta Mol Basis Dis. 2017;1863:3294-3302 pubmed publisher
    ..Inherited mutations in the HSD17B10 gene encoding MRPP2 protein lead to a childhood disorder characterised by progressive neurodegeneration, ..
  36. Metodiev M, Thompson K, Alston C, Morris A, He L, Assouline Z, et al. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. Am J Hum Genet. 2016;98:993-1000 pubmed publisher
    ..Both individuals died at 5 months after respiratory failure. MRPP1, along with MRPP2 and MRPP3, form the mitochondrial ribonuclease P (mt-RNase P) complex that cleaves the 5' ends of mt-tRNAs from ..
  37. Çamtosun E, Flanagan S, Ellard S, Şıklar Z, Hussain K, Kocaay P, et al. A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. J Clin Res Pediatr Endocrinol. 2015;7:144-7 pubmed publisher
    Unlike other congenital fatty acid oxidation defects, short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism in the neonatal or infancy periods...
  38. Akagawa S, Fukao T, Akagawa Y, Sasai H, Kohdera U, Kino M, et al. Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression. JIMD Rep. 2017;32:81-85 pubmed publisher
    ..dehydrogenase deficiency (HSD10 disease) is a rare X-linked disorder caused by a mutation in the HSD17B10 gene. Fewer than 30 patients with this disorder have been reported worldwide...
  39. 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;32:2063-2071 pubmed publisher
    ..Two different mutations, a novel mutation p.Ile175Met and a reported mutation p.Arg226Gln, were detected in the HSD17B10 gene of HSD10 deficiency patients. Six different mutations, including four known mutations: p.Ala333Pro, p...
  40. Zschocke J. HSD10 disease: clinical consequences of mutations in the HSD17B10 gene. J Inherit Metab Dis. 2012;35:81-9 pubmed publisher
    The HSD17B10 gene is located on chromosome Xp11.2 and codes for a multifunctional protein called 17β-hydroxysteroid dehydrogenase type 10 (HSD10)...
  41. Beckmann B, Horos R, Fischer B, Castello A, Eichelbaum K, Alleaume A, et al. The RNA-binding proteomes from yeast to man harbour conserved enigmRBPs. Nat Commun. 2015;6:10127 pubmed publisher
    ..Analyses of the mitochondrial hydroxysteroid dehydrogenase (HSD17B10) uncover the RNA-binding specificity of an enigmRBP.
  42. Deutschmann A, Amberger A, Zavadil C, Steinbeisser H, Mayr J, Feichtinger R, et al. Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. Hum Mol Genet. 2014;23:3618-28 pubmed publisher
    17β-Hydroxysteroid dehydrogenase type 10 (HSD10) is multifunctional protein coded by the X-chromosomal HSD17B10 gene. Mutations in this gene cause HSD10 disease characterized by progressive neurological abnormalities and cardiomyopathy...
  43. Cihan Y, Kanzelmeyer N, Drube J, Kreuzer M, Lerch C, Hennies I, et al. Rabbit anti-human thymocyte immunoglobulin for the rescue treatment of chronic antibody-mediated rejection after pediatric kidney transplantation. Pediatr Nephrol. 2017;32:2133-2142 pubmed publisher
    Chronic antibody-mediated rejection (cAMR) is the leading cause of late kidney graft loss, but current therapies are often ineffective...
  44. Gul A, Zahid N, Ahmed J, Zahir F, Khan I, Ali I. Molecular characterization of Hepatitis C virus 3a in Peshawar. BMC Infect Dis. 2016;16:163 pubmed publisher
    ..at three Tertiary care units of Peshawar [Khyber Teaching Hospital Peshawar, Lady Reading Hospital Peshawar, Hayat Abad Medical Complex Peshawar] were included in this cross sectional observational study...
  45. Budu A, Gomes M, Melo P, El Chamy Maluf S, Bagnaresi P, Azevedo M, et al. Calmidazolium evokes high calcium fluctuations in Plasmodium falciparum. Cell Signal. 2016;28:125-135 pubmed publisher
    ..the [Ca(2+)]cyt-increasing effect of CZ is driven by the removal of Ca(2+) from at least one Ca(2+)-CaM-related (CaMR) protein as well as by the mobilization of Ca(2+) from intracellular acidic calcium stores...
  46. Molven A, Hollister Lock J, Hu J, Martinez R, Njølstad P, Liew C, et al. The Hypoglycemic Phenotype Is Islet Cell-Autonomous in Short-Chain Hydroxyacyl-CoA Dehydrogenase-Deficient Mice. Diabetes. 2016;65:1672-8 pubmed publisher
    ..CHI) can be caused by inactivating mutations in the gene encoding short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD), a ubiquitously expressed enzyme involved in fatty acid oxidation...
  47. Figueroa Teran R, Pak H, Blomquist G, Tittiger C. High substrate specificity of ipsdienol dehydrogenase (IDOLDH), a short-chain dehydrogenase from Ips pini bark beetles. J Biochem. 2016;160:141-51 pubmed publisher
    ..structure: human L-3-hydroxyacyl-CoA dehydrogenase type II/ amyloid-β binding alcohol dehydrogenase (hHADH II/ABAD), and conducted functional assays of recombinant IDOLDH to determine substrate and product ranges and structural ..
  48. Fournet J, Junien C. Genetics of congenital hyperinsulinism. Endocr Pathol. 2004;15:233-40 pubmed
    ..caused by mutations in genes coding for the beta-cell enzymes glucokinase (GK), glutamate dehydrogenase (GDH), and SCHAD. However, for as many as 50% of the cases, no genetic etiology has yet been determined...
  49. Hroch L, Benek O, Guest P, Aitken L, Soukup O, Janockova J, et al. Design, synthesis and in vitro evaluation of benzothiazole-based ureas as potential ABAD/17?-HSD10 modulators for Alzheimer's disease treatment. Bioorg Med Chem Lett. 2016;26:3675-8 pubmed publisher
    ..One such known metabolic enzyme is mitochondrial amyloid-binding alcohol dehydrogenase (ABAD), also known as 17?-hydroxysteroid dehydrogenase type 10 (17?-HSD10)...
  50. Lai X, Umbricht C, Fisher K, Bishop J, Shi Q, Chen S. Identification of novel biomarker and therapeutic target candidates for diagnosis and treatment of follicular carcinoma. J Proteomics. 2017;166:59-67 pubmed publisher
    ..mitochondrial (C21orf33), fumarate hydratase, mitochondrial (FH), 3-hydroxyacyl-CoA dehydrogenase type-2 (HSD17B10), and electron transfer flavoprotein subunit beta (ETFB); and the top seven therapeutic target candidates were ..
  51. Hansis C, Jähner D, Spiess A, Boettcher K, Ivell R. The gene for the Alzheimer-associated beta-amyloid-binding protein (ERAB) is differentially expressed in the testicular Leydig cells of the azoospermic by w/w(v) mouse. Eur J Biochem. 1998;258:53-60 pubmed
    ..organisms, and later shown to have >85% similarity to a novel endoplasmic-reticulum-associated-binding protein (ERAB) from the human brain, implicated in Alzheimer's disease...
  52. He X, Yang Y, Schulz H, Yang S. Intrinsic alcohol dehydrogenase and hydroxysteroid dehydrogenase activities of human mitochondrial short-chain L-3-hydroxyacyl-CoA dehydrogenase. Biochem J. 2000;345 Pt 1:139-43 pubmed
    The alcohol dehydrogenase (ADH) activity of human short-chain l-3-hydroxyacyl-CoA dehydrogenase (SCHAD) has been characterized kinetically. The k(cat) of the purified enzyme was estimated to be 2...
  53. He X, Yang Y, Yang S. Changes of the HSD17B10 gene expression levels in ulcerative colitis. Inflamm Bowel Dis. 2013;19:E23-4 pubmed publisher
  54. Kopajtich R, Mayr J, Prokisch H. Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq. Methods Mol Biol. 2017;1567:379-390 pubmed publisher
    ..There are published cases of patients carrying mutations in either HSD17B10/MRPP2 (encoding a subunit of RNase P complex) or ELAC2 (coding for RNase Z)...
  55. Korabecny J, Nepovimova E, Cikánková T, Spilovská K, Vašková L, Mezeiová E, et al. Newly Developed Drugs for Alzheimer's Disease in Relation to Energy Metabolism, Cholinergic and Monoaminergic Neurotransmission. Neuroscience. 2018;370:191-206 pubmed publisher
    ..modulators of mitochondrial permeability transition pores (mPTP), amyloid-beta binding alcohol dehydrogenase (ABAD) modulators, antioxidant agents, etc...
  56. Marioli D, Saltamavros A, Vervita V, Koika V, Adonakis G, Decavalas G, et al. Association of the 17-hydroxysteroid dehydrogenase type 5 gene polymorphism (-71A/G HSD17B5 SNP) with hyperandrogenemia in polycystic ovary syndrome (PCOS). Fertil Steril. 2009;92:648-52 pubmed publisher
    ..The -71G HSD17B5 variant is not a major component of the molecular pathogenetic mechanisms of PCOS, although it might contribute to the severity of hyperandrogenemia in women with PCOS and biochemical hyperandrogenism. ..
  57. Yang S, He X, Schulz H. 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. FEBS J. 2005;272:4874-83 pubmed
    ..HAD has a preference for medium chain substrates, whereas short chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) acts on a wide spectrum of substrates, including steroids, cholic acids, and fatty acids, with a preference for ..
  58. Rosler A. Steroid 17?-hydroxysteroid dehydrogenase deficiency in man: an inherited form of male pseudohermaphroditism. J Steroid Biochem Mol Biol. 1992;43:989-1002 pubmed publisher
    ..Androgen production increases progressively to normal so that T and DHT concentrations are sufficiently high to gradually induce somatic and genital virilization, thus enabling an adequate male gender function. ..
  59. Vande Walle L, Van Damme P, Lamkanfi M, Saelens X, Vandekerckhove J, Gevaert K, et al. Proteome-wide Identification of HtrA2/Omi Substrates. J Proteome Res. 2007;6:1006-15 pubmed
    ..Our results suggest that HtrA2/Omi has a rather narrow cleavage site preference and that cytoskeletal proteins are prime targets of this protease. ..
  60. Yang S, Dobkin C, He X, Brown W. Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoter. BMC Biochem. 2013;14:17 pubmed publisher
    Hydroxysteroid (17beta) dehydrogenase X (HSD10) is a multifunctional protein encoded by the HSD17B10 gene at Xp11.2. In response to stress or hypoxia-ischemia its levels increase rapidly...
  61. Vilardo E, Rossmanith W. The amyloid-?-SDR5C1(ABAD) interaction does not mediate a specific inhibition of mitochondrial RNase P. PLoS ONE. 2013;8:e65609 pubmed publisher
    ..The mitochondrial dehydrogenase SDR5C1 (also known as ABAD) was shown to bind A? and was proposed to thereby mediate mitochondrial toxicity, but the ..
  62. Vilardo E, Rossmanith W. Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex. Nucleic Acids Res. 2015;43:5112-9 pubmed publisher
    b>SDR5C1 is an amino and fatty acid dehydrogenase/reductase, moonlighting as a component of human mitochondrial RNase P, which is the enzyme removing 5'-extensions of tRNAs, an early and crucial step in tRNA maturation...
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    ..In this regard, enzymes 17 ?-hydroxysteroid dehydrogenase type 3 (17 ? HSD3, encoded by HSD17B3) and steroid 5 ?-reductase type 2 (encoded by SRD5A2) play crucial roles...
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    ..A dehydrogenase type II (HADH) was described as an endoplasmic reticulum amyloid beta-peptide-binding protein (ERAB), which enhances Abeta toxicity, and accumulates in neurons in Alzheimer's disease (AD)...
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    ..reports indicate that A? may also interact directly with intracellular proteins such as the mitochondrial enzyme ABAD (A? binding alcohol dehydrogenase) in executing its toxic effects...
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    ..Three HSD10 variants associated with neurodegenerative disorders are inactive with cardiolipin. We suggest that HSD10 protects humans from reactive oxygen species by removing damaged cardiolipin before it induces apoptosis. ..
  68. Zhu J, Zhao L, Dai X, Luo Y, Fan H, Feng Z, et al. Fenestrated Thoracic Endovascular Aortic Repair Using Physician Modified Stent Grafts for Acute Type B Aortic Dissection with Unfavourable Landing Zone. Eur J Vasc Endovasc Surg. 2018;55:170-176 pubmed publisher
    ..using physician modified stent grafts (PMSGs) to revascularise aortic branches for acute type B aortic dissection (ABAD) with unfavourable proximal landing zone...
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    Since Pars Abad district had been known as a focus of visceral leishmaniasis (VL) in Ardabil Province but the prevalence of the disease in nomadic tribes has not been determined, thus, this study was conducted.
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    ..These findings are of fundamental importance for our molecular understanding of disease-related mutations in MRPP1/2, ELAC2 and mitochondrial tRNA genes. ..
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    We describe three patients, from two Spanish families, with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency, a recently described X-linked neurodegenerative inborn error of isoleucine metabolism...
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    17?-Hydroxysteroid dehydrogenase type 10 (17?-HSD10) is encoded by the HSD17B10 gene mapping at Xp11.2...
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    ..This suggests that blockade of HSD10 may halt and/or prevent cancer growth, thus providing a promising novel target for cancer patients as a screening or therapeutic option. ..
  74. Ikushima S, Boeke J. New Orthogonal Transcriptional Switches Derived from Tet Repressor Homologues for Saccharomyces cerevisiae Regulated by 2,4-Diacetylphloroglucinol and Other Ligands. ACS Synth Biol. 2017;6:497-506 pubmed publisher
    ..Orthogonality between the TetR (doxycycline), CamR (d-camphor), PhlF (DAPG), and CymR (p-cumate)-based Off switches was demonstrated by evaluating all 4 ligands ..
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  76. Faridullah -, Ahmad D, Shabbir H, Ahmed T, Irshad M, Alam A, et al. Socio-demographic characters, distribution and transformation of iodine in soil, plant and wheat grains at District Diamer, Gilgit-Baltistan, Pakistan. Environ Geochem Health. 2018;40:777-790 pubmed publisher
    ..The concentration of iodine in wheat crop plant sampled were considerably varied as Boner > Gais > Goher Abad with 1.12, 0.91 and 0.81 mg kg-1. respectively...
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    ..This work provides the first mechanism linking RNA processing and estrogen activation in mitochondrial gene expression and underscores the coordinated response between the nucleus and mitochondria in response to stress. ..
  78. Bertolin G, Jacoupy M, Traver S, Ferrando Miguel R, Saint Georges T, Grenier K, et al. Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10. Cell Death Differ. 2015;22:1563-76 pubmed publisher
    ..the multifunctional PD-related mitochondrial matrix enzyme 17-β hydroxysteroid dehydrogenase type 10 (HSD17B10) as a new Parkin substrate...
  79. Ozeki T, Takeuchi M, Suzuki M, Kitamura T, Takayanagi R, Yokoyama H, et al. Single nucleotide polymorphisms of 17beta-hydroxysteroid dehydrogenase type 7 gene: mechanism of estramustine-related adverse reactions?. Int J Urol. 2009;16:836-41 pubmed publisher
    ..This difference in HSD17B7 expression may regulate the risk of peripheral edema as an adverse reaction induced by estramustine phosphate sodium. ..
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    ..its toxicity resulted in the identification of the endoplasmic-reticulum (ER) associated Abeta binding protein (ERAB) which was also shown to be involved in Abeta induced apoptosis...
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    ..glucokinase (GCK), glutamate dehydrogenase (GLUD1), and short-chain 3-hydroxyacyl-coenzyme A dehydrogenase (SCHAD), have been implicated...
  82. Zhou Y, Wynia Smith S, Couvertier S, Kalous K, Marletta M, Smith B, et al. Chemoproteomic Strategy to Quantitatively Monitor Transnitrosation Uncovers Functionally Relevant S-Nitrosation Sites on Cathepsin D and HADH2. Cell Chem Biol. 2016;23:727-37 pubmed publisher
    ..sites revealed that S-nitrosation of a cysteine residue distal to the 3-hydroxyacyl-CoA dehydrogenase type 2 (HADH2) active site impaired catalytic activity...
  83. Chatfield K, Coughlin C, Friederich M, Gallagher R, Hesselberth J, Lovell M, et al. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015;21:1-10 pubmed publisher
    ..The mRNAs of all RNase P subunits were preserved in heart and overexpressed in muscle, but MRPP2 protein was severely decreased...
  84. Marques A, Fernandes P, Ramos M. ABAD: a potential therapeutic target for Abeta-induced mitochondrial dysfunction in Alzheimer's disease. Mini Rev Med Chem. 2009;9:1002-8 pubmed
    Amyloid-beta-peptide (Abetabinding to mitochondrial Abeta-binding alcohol dehydrogenase (ABAD) enzyme triggers a series of events leading to mitochondrial dysfunction characteristic of Alzheimer's disease (AD)...
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    Amyloid-beta peptide-binding alcohol dehydrogenase (ABAD) inhibiting peptide, as a specific inhibitor between ABAD and amyloid-beta (Abeta), has been demonstrated to effectively inhibit Abeta peptide cytotoxicity...