| 1 | HSD17B10, PRORP, TRMT10C
|
| Structural basis of RNA processing by human mitochondrial RNase P.
|
| Bhatta A, Dienemann C, Cramer P, Hillen HS.
|
| Nat Struct Mol Biol. Sep;28(9):713-723. doi: 10.1038/s41594-021-00637-y. Epub 2021 Sep 6 2021
|
| 2 | HSD17B10, PRORP, TRMT10C
|
| Interplay between substrate recognition, 5' end tRNA processing and methylation activity of human mitochondrial RNase P
|
| Karasik A, Fierke CA, Koutmos M.
|
| RNA. Dec;25(12):1646-1660. doi: 10.1261/rna.069310.118. Epub 2019 Aug 27. 2019
|
| 3 | HSD17B10, MHBD, MRPP1D, PRORP, TRMT10C
|
| Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein
|
| Oerum S, Roovers M, Leichsenring M, Acquaviva-Bourdain C, Beermann F, Gemperle-Britschgi C, Fouilhoux A, Korwitz-Reichelt A, Bailey HJ, Droogmans L, Oppermann U, Sass JO, Yue WW.
|
| Biochim Biophys Acta Mol Basis Dis. Dec;1863(12):3294-3302. doi: 10.1016/j.bbadis.2017.09.002. Epub 2017 Sep 7. 2017
|
| 4 | HSD17B10, MRPP1D, PRORP, TRMT10C
|
| Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
|
| Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW.
|
| Am J Hum Genet 98(5):993-1000. doi: 10.1016/j.ajhg.2016.03.010. Epub 2016 Apr 28. 2016
|
| 5 | HSD17B10, TRMT10C
|
| Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
|
| Vilardo E, Rossmanith W.
|
| Nucleic Acids Res 43(10):5112-9. doi: 10.1093/nar/gkv408. Epub 2015 Apr 29. Erratum in: Nucleic Acids Res. 2015 Jul 27;43(13):6649.
2015
|
| 6 | HSD17B10
|
| Overexpression of 17β-hydroxysteroid dehydrogenase type 10 increases pheochromocytoma cell growth and resistance to cell death.
|
| Carlson EA, Marquez RT, Du F, Wang Y, Xu L, Yan SS.
|
| BMC Cancer 15:166. doi: 10.1186/s12885-015-1173-5.
2015
|
| 7 | HSD17B10
|
| Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.
|
| Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL.
|
| Mitochondrion 21:1-10. doi: 10.1016/j.mito.2014.12.005. Epub 2015 Jan 6.
2015
|
| 8 | HSD17B10, PRORP, TRMT10C
|
| Structure of the nuclease subunit of human mitochondrial RNase P.
|
| Reinhard L, Sridhara S, Hällberg BM.
|
| Nucleic Acids Res 43(11):5664-72. doi: 10.1093/nar/gkv481. Epub 2015 May 7. 2015
|
| 9 | HSD17B10, PRORP, TRMT10C
|
| Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
|
| Deutschmann AJ, Amberger A, Zavadil C, Steinbeisser H, Mayr JA, Feichtinger RG, Oerum S, Yue WW, Zschocke J.
|
| Hum Mol Genet 23(13):3618-28. doi: 10.1093/hmg/ddu072. Epub 2014 Feb 18. 2014
|
| 10 | HSD17B10
|
| Roles of 17β-hydroxysteroid dehydrogenase type 10 in neurodegenerative disorders.
|
| Yang SY, He XY, Isaacs C, Dobkin C, Miller D, Philipp M.
|
| J Steroid Biochem Mol Biol 143:460-72. doi: 10.1016/j.jsbmb.2014.07.001. Epub 2014 Jul 5. Review.
2014
|
| 11 | HSD17B10
|
| Identification of human ABAD inhibitors for rescuing Aβ-mediated mitochondrial dysfunction.
|
| Valaasani KR, Sun Q, Hu G, Li J, Du F, Guo Y, Carlson EA, Gan X, Yan SS.
|
| Curr Alzheimer Res 11(2):128-36.
2014
|
| 12 | HSD17B10, MHBD
|
| Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoter.
|
| Yang SY, Dobkin C, He XY, Brown WT.
|
| BMC Biochem 14:17. doi: 10.1186/1471-2091-14-17.
2013
|
| 13 | HSD17B10, MHBD
|
| A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation.
|
| Yang SY, Dobkin C, He XY, Philipp M, Brown WT.
|
| Gene 515(2):380-4. doi: 10.1016/j.gene.2012.12.064. Epub 2012 Dec 22.
2013
|
| 14 | HSD17B10, MHBD
|
| HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.
|
| Zschocke J.
|
| J Inherit Metab Dis 35(1):81-9. doi: 10.1007/s10545-011-9415-4. Epub 2011 Nov 30. Review.
2012
|
| 15 | HSD17B10
|
| Inhibition of the mitochondrial enzyme ABAD restores the amyloid-β-mediated deregulation of estradiol.
|
| Lim YA, Grimm A, Giese M, Mensah-Nyagan AG, Villafranca JE, Ittner LM, Eckert A, Götz J.
|
| PLoS One 6(12):e28887. doi: 10.1371/journal.pone.0028887. Epub 2011 Dec 12.
2011
|
| 16 | HSD17B10, MHBD
|
| A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
|
| Rauschenberger K, Schöler K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI, Okun JG, Kölker S, Schwarz H, Fischer C, Grziwa B, Runz H, Nümann A, Shafqat N, Kavanagh KL, Hämmerling G, Wanders RJ, Shield JP, Wendel U, Stern D, Nawroth P, Hoffmann GF, Bartram CR, Arnold B, Bierhaus A, Oppermann U, Steinbeisser H, Zschocke J.
|
| EMBO Mol Med 2(2):51-62. doi: 10.1002/emmm.200900055.
2010
|
| 17 | HSD17B10, MRX17, MRX31
|
| Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
|
| Yang SY, He XY, Olpin SE, Sutton VR, McMenamin J, Philipp M, Denman RB, Malik M.
|
| Proc Natl Acad Sci U S A 106(35):14820-4. Epub 2009 Aug 17.PMID: 19706438 2009
|
| 18 | DUPXPP, HSD17B10, HUWE1, MRX17, MRX31
|
| Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
|
| Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, GŽcz J.
|
| Am J Hum Genet 82(2):432-43. Epub 2008 Jan 24. 2008
|
| 19 | HSD17B10, CAMR
|
| The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
|
| Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J.
|
| Am J Hum Genet 80(2):372-7. Epub 2006 Dec 28. 2007
|
| 20 | HSD17B10, MHBD, CAMR
|
| HSD17B10: A gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
|
| Yang SY, He XY, Miller D.
|
| Mol Genet Metab 92(1-2):36-42. Epub 2007 Jul 6. 2007
|
| 21 | ACAD8D, ACADM, ACADSB, ACADSBD, ACAT1, HSD17B10, MCCC1, MCCC2, MHBD
|
| Biochemical findings in common inborn errors of metabolism.
|
| Pasquali M, Monsen G, Richardson L, Alston M, Longo N.
|
| Am J Med Genet C Semin Med Genet 142(2):64-76. Review. 2006
|
| 22 | HSD17B10
|
| Comparative evolutionary genomics of the HADH2 gene encoding Abeta-binding alcohol dehydrogenase/17beta-hydroxysteroid dehydrogenase type 10 (ABAD/HSD10).
|
| Marques AT, Antunes A, Fernandes PA, Ramos MJ.
|
| BMC Genomics 7:202. 2006
|
| 23 | HSD17B10, MHBD
|
| 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease.
|
| Garcia-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, Garcia-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M.
|
| Pediatr Res 58(3):488-91. 2005
|
| 24 | HADH, HSD17B10
|
| 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
|
| Yang SY, He XY, Schulz H.
|
| FEBS J 272(19):4874-83. Review. 2005
|
| 25 | HSD17B10
|
| Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase.
|
| He XY, Wegiel J, Yang SY.
|
| Brain Res 1040(1-2):29-35. 2005
|
| 26 | HSD17B10
|
| ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease.
|
| Lustbader JW, Cirilli M, Lin C, Xu HW, Takuma K, Wang N, Caspersen C, Chen X, Pollak S, Chaney M, Trinchese F, Liu S, Gunn-Moore F, Lue LF, Walker DG, Kuppusamy P, Zewier ZL, Arancio O, Stern D, Yan SS, Wu H.
|
| Science 304(5669):448-52. 2004
|
| 27 | HSD17B10, MHBD
|
| 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.
|
| Poll-The BT, Wanders RJ, Ruiter JP, Ofman R, Majoie CB, Barth PG, Duran M.
|
| Mol Genet Metab 81(4):295-9. 2004
|
| 28 | HSD17B10, MHBD
|
| 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
|
| Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ.
|
| Am J Hum Genet 72(5):1300-7. Epub 2003 Apr 14. 2003
|
| 29 | HSD17B10
|
| A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to anamyloid beta-peptide-binding protein involved in Alzheimer's disease.
|
| He XY, Schulz H, Yang SY.
|
| J Biol Chem 273(17):10741-6. 1998
|
| 30 | HSD17B10
|
| Chromosomal basis of X chromosome inactivation: identification of a multigenedomain in Xp11.21-p11.22 that escapes X inactivation.
|
| Miller AP, Willard HF.
|
| Proc Natl Acad Sci U S A 95(15):8709-14. 1998
|
| 31 | HSD17B10
|
| An intracellular protein that binds amyloid-beta peptide and mediatesneurotoxicity in Alzheimer's disease.
|
| Yan SD, Fu J, Soto C, Chen X, Zhu H, Al-Mohanna F, Collison K, Zhu A,Stern E, Saido T, Tohyama M, Ogawa S, Roher A, Stern D.
|
| Nature 389(6652):689-95. 1997
|