| [Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes]. | [Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes].
Ji W, Tian G, Zhang X, Wang Y, Yang Y, Zhou Z, Guo J. | 05/1/2024 |
| Involvement of Type 10 17beta-Hydroxysteroid Dehydrogenase in the Pathogenesis of Infantile Neurodegeneration and Alzheimer's Disease. | Involvement of Type 10 17β-Hydroxysteroid Dehydrogenase in the Pathogenesis of Infantile Neurodegeneration and Alzheimer's Disease.
He XY, Frackowiak J, Dobkin C, Brown WT, Yang SY., Free PMC Article | 03/29/2024 |
| Infantile Neurodegeneration Results from Mutants of 17beta-Hydroxysteroid Dehydrogenase Type 10 Rather Than Abeta-Binding Alcohol Dehydrogenase. | Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase.
He XY, Dobkin C, Brown WT, Yang SY., Free PMC Article | 06/2/2023 |
| ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism. | ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Wohlfarter Y, Eidelpes R, Yu RD, Sailer S, Koch J, Karall D, Scholl-Bürgi S, Amberger A, Hillen HS, Zschocke J, Keller MA., Free PMC Article | 10/29/2022 |
| Structural basis of RNA processing by human mitochondrial RNase P. | Structural basis of RNA processing by human mitochondrial RNase P.
Bhatta A, Dienemann C, Cramer P, Hillen HS., Free PMC Article | 10/16/2021 |
| Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1. | Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
Wang Q, Chen P, Liu J, Lou J, Liu Y, Yuan H., Free PMC Article | 05/15/2021 |
| Deacetylation of HSD17B10 by SIRT3 regulates cell growth and cell resistance under oxidative and starvation stresses. | Deacetylation of HSD17B10 by SIRT3 regulates cell growth and cell resistance under oxidative and starvation stresses.
Liu L, Chen S, Yu M, Ge C, Ren M, Liu B, Yang X, Christian TW Jr, Hou YM, Zou J, Zhu WG, Luo J., Free PMC Article | 03/27/2021 |
| Results identified a single missense variant, c.364C>G, p.Leu122Val, in patients with HSD10 mitochondrial disease (HSD10MD). The phenotype associated with it currently appears to be attenuated and nonprogressive. This report widens the spectrum of phenotypic severity of HSD10MD and contributes to genotype-phenotype correlation. At present, p.Leu122Val is considered a "variant of uncertain significance." | HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
Waters PJ, Lace B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Lévesque S, Maranda B., Free PMC Article | 06/20/2020 |
| This study proposes low-resolution models of the MRPP1-MRPP2 and MRPP1-MRPP2-MRPP3 complexes that suggest the overall architecture, stoichiometry, and orientation of subunits and tRNA substrates. | Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.
Oerum S, Roovers M, Rambo RP, Kopec J, Bailey HJ, Fitzpatrick F, Newman JA, Newman WG, Amberger A, Zschocke J, Droogmans L, Oppermann U, Yue WW., Free PMC Article | 02/16/2019 |
| 17beta-Hydroxysteroid dehydrogenase type 10 is a multifunctional, homotetrameric, mitochondrial protein encoded by the HSD17B10 gene at Xp 11.2. This protein, 17beta-HSD10, is overexpressed in brain cells of Alzheimer's disease (AD) patients. Analysis of the impact of 17beta-HSD10 and its inhibitor, amyloid-beta peptide (Abeta), on the metabolism of neuroactive steroids offers a new approach to AD pathogenesis. | Roles of Mitochondrial 17β-Hydroxysteroid Dehydrogenase Type 10 in Alzheimer's Disease.
He XY, Isaacs C, Yang SY. | 02/9/2019 |
| Authors report two patients with novel missense mutations in the HSD17B10 gene (c.34G>C and c.526G>A), resulting in the p.V12L and p.V176M substitutions. Val12 and Val176 are highly conserved residues located at different regions of the MRPP2 structure. | 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. | 12/22/2018 |
| in addition to being an essential component of the RNase P reaction, MRPP1/2 serves as a processing platform for several down-stream tRNA maturation steps in human mitochondria. | The MRPP1/MRPP2 complex is a tRNA-maturation platform in human mitochondria.
Reinhard L, Sridhara S, Hällberg BM., Free PMC Article | 12/30/2017 |
| The S-nitrosation of a cysteine residue distal to the 3-hydroxyacyl-CoA dehydrogenase type 2 (HADH2) active site impaired catalytic activity. | Chemoproteomic Strategy to Quantitatively Monitor Transnitrosation Uncovers Functionally Relevant S-Nitrosation Sites on Cathepsin D and HADH2.
Zhou Y, Wynia-Smith SL, Couvertier SM, Kalous KS, Marletta MA, Smith BC, Weerapana E., Free PMC Article | 11/11/2017 |
| A computational study and enzyme inhibition assay with full length human 17-beta-HSD10 identifies risperidone as enzyme inhibitor and possible antineoplastic agent. | A chemical genomics approach to drug reprofiling in oncology: Antipsychotic drug risperidone as a potential adenocarcinoma treatment.
Dilly SJ, Clark AJ, Marsh A, Mitchell DA, Cain R, Fishwick CWG, Taylor PC. | 08/19/2017 |
| Data suggest that HSD10 plays a role in alterations of energy metabolism by regulating mtDNA content in colorectal carcinomas. | 17β-Hydroxysteroid dehydrogenase type 10 predicts survival of patients with colorectal cancer and affects mitochondrial DNA content.
Amberger A, Deutschmann AJ, Traunfellner P, Moser P, Feichtinger RG, Kofler B, Zschocke J. | 07/16/2016 |
| upon exposure to E2, ERalpha rapidly localizes to mitochondria, in which it interacts with HSD17B10 to modulate the expression of mitochondrial RNA transcripts. | Estrogen-mediated regulation of mitochondrial gene expression.
Sanchez MI, Shearwood AM, Chia T, Davies SM, Rackham O, Filipovska A., Free PMC Article | 03/26/2016 |
| Our findings demonstrate that overexpression of HSD10 accelerates pheochromocytoma cell growth, enhances cell respiration, and increases cellular resistance to cell death induction. | 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., Free PMC Article | 01/2/2016 |
| Three HSD10 variants associated with neurodegenerative disorders are inactive with cardiolipin | Myxococcus CsgA, Drosophila Sniffer, and human HSD10 are cardiolipin phospholipases.
Boynton TO, Shimkets LJ., Free PMC Article | 12/19/2015 |
| The authors demonstrate elevated amounts of unprocessed pre-tRNAs and mRNA transcripts encoding mitochondrial subunits indicating deficient RNase P activity in HSD10 disease. | 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., Free PMC Article | 11/21/2015 |
| The study showed that pathogenic mutations impair SDR5C1-dependent dehydrogenation, tRNA processing and methylation. | Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Vilardo E, Rossmanith W., Free PMC Article | 08/22/2015 |
| loss of HSD10 causes impaired mitochondrial precursor transcript processing which may explain mitochondrial dysfunction observed in HSD10 disease | 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. | 03/7/2015 |
| Defects in this gene are a cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. The encoded protein does not exhibit generalized alcohol dehydrogenase activity as was previously thought. | Roles of 17β-hydroxysteroid dehydrogenase type 10 in neurodegenerative disorders.
Yang SY, He XY, Isaacs C, Dobkin C, Miller D, Philipp M. | 08/14/2014 |
| 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 | Characterization of prostate cancer bone metastases according to expression levels of steroidogenic enzymes and androgen receptor splice variants.
Jernberg E, Thysell E, Bovinder Ylitalo E, Rudolfsson S, Crnalic S, Widmark A, Bergh A, Wikström P., Free PMC Article | 07/26/2014 |
| Inhibition of mitochondrial RNase P by beta-amyloid is an unspecific effect and is not mediated by beta-amyloid interaction with SDR5C1. | The amyloid-β-SDR5C1(ABAD) interaction does not mediate a specific inhibition of mitochondrial RNase P.
Vilardo E, Rossmanith W., Free PMC Article | 01/18/2014 |
| Two major HSD17B10 transcription start sites were identified by primer extension at -37 and -6 as well as a minor start site at -12 nucleotides from the initiation codon ATG. | Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoter.
Yang SY, Dobkin C, He XY, Brown WT., Free PMC Article | 09/28/2013 |