PubMed (OMIM) for id: 3028

Year	Number of Results
1997	2
1998	2
1999	2
2000	2
2002	2
2003	2
2004	2
2005	3
2006	1
2007	2
2008	2
2009	1
2010	1
2011	2
2012	1
2014	1
2016	1
2024	0

1

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.

Falk MJ, Gai X, Shigematsu M, Vilardo E, Takase R, McCormick E, Christian T, Place E, Pierce EA, Consugar M, Gamper HB, Rossmanith W, Hou YM. Falk MJ, et al. RNA Biol. 2016 May 3;13(5):477-85. doi: 10.1080/15476286.2016.1159381. Epub 2016 Mar 7. RNA Biol. 2016. PMID: 26950678 Free PMC article.

2

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. Deutschmann AJ, et al. Hum Mol Genet. 2014 Jul 1;23(13):3618-28. doi: 10.1093/hmg/ddu072. Epub 2014 Feb 18. Hum Mol Genet. 2014. PMID: 24549042

3

A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.

Seaver LH, He XY, Abe K, Cowan T, Enns GM, Sweetman L, Philipp M, Lee S, Malik M, Yang SY. Seaver LH, et al. PLoS One. 2011;6(11):e27348. doi: 10.1371/journal.pone.0027348. Epub 2011 Nov 22. PLoS One. 2011. PMID: 22132097 Free PMC article.

4

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.

Zschocke J. Zschocke J. J Inherit Metab Dis. 2012 Jan;35(1):81-9. doi: 10.1007/s10545-011-9415-4. Epub 2011 Nov 30. J Inherit Metab Dis. 2012. PMID: 22127393 Review.

5

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. Rauschenberger K, et al. EMBO Mol Med. 2010 Feb;2(2):51-62. doi: 10.1002/emmm.200900055. EMBO Mol Med. 2010. PMID: 20077426 Free PMC article.

6

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. Yang SY, et al. Proc Natl Acad Sci U S A. 2009 Sep 1;106(35):14820-4. doi: 10.1073/pnas.0902377106. Epub 2009 Aug 17. Proc Natl Acad Sci U S A. 2009. PMID: 19706438 Free PMC article.

7

RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme.

Holzmann J, Frank P, Löffler E, Bennett KL, Gerner C, Rossmanith W. Holzmann J, et al. Cell. 2008 Oct 31;135(3):462-74. doi: 10.1016/j.cell.2008.09.013. Cell. 2008. PMID: 18984158 Free article.

8

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, Gécz J. Froyen G, et al. Am J Hum Genet. 2008 Feb;82(2):432-43. doi: 10.1016/j.ajhg.2007.11.002. Epub 2008 Jan 24. Am J Hum Genet. 2008. PMID: 18252223 Free PMC article.

9

HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.

Yang SY, He XY, Miller D. Yang SY, et al. Mol Genet Metab. 2007 Sep-Oct;92(1-2):36-42. doi: 10.1016/j.ymgme.2007.06.001. Epub 2007 Jul 6. Mol Genet Metab. 2007. PMID: 17618155 Review.

10

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. Lenski C, et al. Am J Hum Genet. 2007 Feb;80(2):372-7. doi: 10.1086/511527. Epub 2006 Dec 28. Am J Hum Genet. 2007. PMID: 17236142 Free PMC article.

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