| 1 | HSD17B10, MHBD, MRPP1D, PRORP, TRMT10C
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| Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein
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| 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.
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| Biochim Biophys Acta Mol Basis Dis. Dec;1863(12):3294-3302. doi: 10.1016/j.bbadis.2017.09.002. Epub 2017 Sep 7. 2017
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| 2 | HSD17B10, MHBD
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| Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoter.
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| Yang SY, Dobkin C, He XY, Brown WT.
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| BMC Biochem 14:17. doi: 10.1186/1471-2091-14-17.
2013
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| 3 | HSD17B10, MHBD
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| A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation.
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| Yang SY, Dobkin C, He XY, Philipp M, Brown WT.
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| Gene 515(2):380-4. doi: 10.1016/j.gene.2012.12.064. Epub 2012 Dec 22.
2013
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| 4 | HSD17B10, MHBD
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| HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.
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| Zschocke J.
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| J Inherit Metab Dis 35(1):81-9. doi: 10.1007/s10545-011-9415-4. Epub 2011 Nov 30. Review.
2012
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| 5 | HSD17B10, MHBD
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| A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
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| 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.
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| EMBO Mol Med 2(2):51-62. doi: 10.1002/emmm.200900055.
2010
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| 6 | HSD17B10, MHBD, CAMR
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| HSD17B10: A gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
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| Yang SY, He XY, Miller D.
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| Mol Genet Metab 92(1-2):36-42. Epub 2007 Jul 6. 2007
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| 7 | ACAD8D, ACADM, ACADSB, ACADSBD, ACAT1, HSD17B10, MCCC1, MCCC2, MHBD
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| Biochemical findings in common inborn errors of metabolism.
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| Pasquali M, Monsen G, Richardson L, Alston M, Longo N.
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| Am J Med Genet C Semin Med Genet 142(2):64-76. Review. 2006
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| 8 | HSD17B10, MHBD
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| 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease.
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| Garcia-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, Garcia-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M.
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| Pediatr Res 58(3):488-91. 2005
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| 9 | HSD17B10, MHBD
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| 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.
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| Poll-The BT, Wanders RJ, Ruiter JP, Ofman R, Majoie CB, Barth PG, Duran M.
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| Mol Genet Metab 81(4):295-9. 2004
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| 10 | HSD17B10, MHBD
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| 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
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| Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ.
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| Am J Hum Genet 72(5):1300-7. Epub 2003 Apr 14. 2003
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