Corrigendum: Molecular insights into HSD10 disease: Impact of SDR5C1 mutations on the human mitochondrial RNase P complex Nucleic Acids Research (2015) 43, 10 (5112-5119) DOI: 10.1093/nar/gkv408);Molecular insights into HSD10 disease: Impact of SDR5C1 mutations on the human mitochondrial RNase P complex

Nucleic Acids Research

Volumn 43, Issue 10, 2015, Pages 5112-5119

  Vilardo, Elisa ^a   Rossmanith, Walter ^a  

^a Medical University of Vienna   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

BUTYRYL COENZYME A DEHYDROGENASE; METHYLTRANSFERASE TRMT10C; RIBONUCLEASE P; SHORT CHAIN DEHYDROGENASE REDUCTASE 5C1; UNCLASSIFIED DRUG; 3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACETYLTRANSFERASE; HSD17B10 PROTEIN, HUMAN; METHYLTRANSFERASE; TRANSFER RNA; TRMT10C PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; DEHYDROGENATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME SUBSTRATE COMPLEX; HSD10 DISEASE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; RNA METHYLATION; RNA PROCESSING; CHEMISTRY; DEFICIENCY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ENZYMOLOGY; GENETICS; METABOLISM; MITOCHONDRION;

3-HYDROXYACYL COA DEHYDROGENASES; ACETYL-COA C-ACETYLTRANSFERASE; LIPID METABOLISM, INBORN ERRORS; METHYLTRANSFERASES; MITOCHONDRIA; MUTATION; RIBONUCLEASE P; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA, TRANSFER;

EID: 84931282048     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkv658     Document Type: Erratum

References (44)

1. Kallberg, Y, Oppermann, U., Jörnvall, H. and Persson, B. (2002) Short-chain dehydrogenases/reductases (SDRs). Eur. J. Biochem., 269, 4409-4417.
2. Luo, M.J., Mao, L.-F. and Schulz, H. (1995) Short-chain 3-hydroxy-2-methylacyl-CoA dehydrogenase from rat liver: purifcation and characterization of a novel enzyme of isoleucine metabolism. Arch. Biochem. Biophys., 321, 214-220.
3. He, X.-Y, Merz, G., Mehta, P., Schulz, H. and Yang, S.-Y (1999) Human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase is a single-domain multifunctional enzyme. Characterization of a novel 17ß-hydroxysteroid dehydrogenase. J. Biol. Chem., 274, 15014-15019.
4. He, X.-Y, Merz, G., Yang, Y-Z., Pullakart, R., Mehta, P., Schulz, H. and Yang, S.-Y (2000) Function of human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase in androgen metabolism. Biochim. Biophys. Acta, 1484, 267-277.
5. He, X.-Y, Yang, Y-Z., Schulz, H. and Yang, S.-Y (2000) Intrinsic alcohol dehydrogenase and hydroxysteroid dehydrogenase activities of human mitochondrial short-chain L-3-hydroxyacyl-CoA dehydrogenase. Biochem. J., 345, 139-143.
6. Shafqat, N., Marschall, H.-U., Filling, C, Nordling, E., Wu, X.-Q., Björk, L., Thyberg, J., Mårtensson, E., Salim, S., Jörnvall, H. et al. (2003) Expanded substrate screenings of human and Drosophila type 10 17ß-hydroxysteroid dehydrogenases (HSDs) reveal multiple specifcities in bile acid and steroid hormone metabolism: characterization of multifunctional 3a/7a/7ß/17ß/20ß/21-HSD. Biochem. J., 376, 49-60.
7. He, X.-Y, Wegiel, J., Yang, Y-Z., Pullarkat, R., Schulz, H. and Yang, S.-Y (2005) Type 10 17beta-hydroxysteroid dehydrogenase catalyzing the oxidation of steroid modulators of-y-aminobutyric acid type A receptors. Mol. Cell. Endocrinol., 229, 111-117.
8. He, X.-Y, Wegiel, J. and Yang, S.-Y (2005) Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase. Brain Res., 1040, 29-35.
9. Adamski, J. and Jakob, FJ. (2001) A guide to 17ß-hydroxysteroid dehydrogenases. Mol. Cell. Endocrinol., 171, 1-4.
10. Yang, S.-Y, He, X.-Y and Schulz, H. (2005) Multiple functions of type 10 17ß-hydroxysteroid dehydrogenase. Trends Endocrinol. Metab., 16, 167-175.
11. Yang, S.-Y, He, X.-Y and Miller, D. (2007) HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. Mol. Genet. Metab., 92, 36-42.
12. Rauschenberger, K., Schöler, K., Sass, J.O., Sauer, S., Djuric, Z., Rumig, C, Wolf, N.I., Okun, J.G., Kölker, S., Schwarz, H. et al. (2010) A non-enzymatic function of 17ß-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol. Med, 2, 51-62.
13. Torroja, L., Ortuno-Sahagún, D, Ferrús, A., Hämmerle, B. and Barbas, J.A. (1998) Scully, an essential gene of Drosophila, is homologous to mammalian mitochondrial type II L-3-hydroxyacyl-CoA dehydrogenase/amyloid-ß peptide-binding protein. J. Cell Biol, 141, 1009-1017.
14. Zschocke, J., Ruiter, J.P.N., Brand, J., Lindner, M., Hoffmann, G.F., Wanders, R.J.A. and Mayatepek, E. (2000) Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase defciency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr. Res., 48, 852-855.
15. Ensenauer, R., Niederhoff, H., Ruiter, J.P.N., Wanders, R.J.A., Schwab, K.O., Brandis, M. and Lehnert, W. (2002) Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase defciency. Ann. Neurol, 51, 656-659.
16. Olpin, S.E., Pollitt, R.J., McMenamin, J., Manning, N.J., Besley, G., Ruiter, J.PN. and Wanders, R.J.A. (2002) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase defciency in a 23-year-old man. J. Inherit. Metab. Dis., 25, 477-482.
17. Sutton, V.R., O'Brien, W.E., Clark, G.D., Kim, J. and Wanders, R.J.A. (2003) 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase defciency. J. Inherit. Metab. Dis., 26, 69-71.
18. Sass, J.O., Forstner, R. and Sperl, W. (2004) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase defciency: impaired catabolism of isoleucine presenting as neurodegenerative disease. Brain Dev., 26, 12-14.
19. Poll-The, B.T., Wanders, R.J.A., Ruiter, J.PN., Ofman, R., Majoie, CB.L.M., Barth, PG and Duran, M. (2004) Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase defciency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases. Mol. Genet. Metab, 81, 295-299.
20. Garcia-Villoria, J., Navarro-Sastre, A, Fons, C, Pérez-Cerdá, C., Baldellou, A., Fuentes-Castelló, M.A., González, I., Hernandez-Gonzalez, A., Fernández, C, Campistol, J. et al. (2009) Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) defciency: diffculties in the diagnosis. Clin. Biochem., 42, 27-33.
21. Perez-Cerda, C, Garcia-Villoria, J., Ofman, R., Sala, PR., Merinero, B., Ramos, J., Garcia-Silva, M.T., Beseler, B., Dalmau, J., Wanders, R.J.A. et al. (2005) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) defciency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr. Res., 58, 488-491.
22. Cazorla, M.R., Verdu, A., Perez-Cerda, C and Ribes, A. (2007) Neuroimage fndings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase defciency. Pediatr. Neurol, 36, 264-267.
23. Zschocke, J. (2012) HSD10 disease: clinical consequences of mutations in the HSD17B10 gene. J. Inherit. Metab. Dis., 35, 81-89.
24. Lenski, C, Kooy, R.F., Reyniers, E., Loessner, D., Wanders, R.J.A., Winnepenninckx, B., Hellebrand, H., Engert, S., Schwartz, CE., Meindl, A. et al. (2007) The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. Am. J. Hum. Genet., 80, 372-377.
25. Seaver, L.H., He, X.-Y, Abe, K., Cowan, T., Enns, G.M., Sweetman, L., Philipp, M., Lee, S., Malik, M. and Yang, S.-Y (2011) A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. PLoS ONE, 6, e27348.
26. Fukao, T., Akiba, K., Goto, M., Kuwayama, N., Morita, M., Hori, T., Aoyama, Y, Venkatesan, R., Wierenga, R., Moriyama, Y et al. (2014) The frst case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase defciency (HSD10 disease) with atypical presentation. J Hum Genet, 59, 609-614.
27. Korman, S.H. (2006) Inborn errors of isoleucine degradation: a review. Mol. Genet. Metab., 89, 289-299.
28. Holzmann, J., Frank, P, Löffer, E., Bennett, K.L., Gerner, C and Rossmanith, W. (2008) RNase P without RNA: identifcation and functional reconstitution of the human mitochondrial tRNA processing enzyme. Cell, 135, 462-474.
29. Rossmanith, W. (2012) Of P and Z: mitochondrial tRNA processing enzymes. Biochim. Biophys. Acta, 1819, 1017-1026.
30. Rossmanith, W. and Holzmann, J. (2009) Processing mitochondrial (t)RNAs: new enzyme, old job. Cell Cycle, 8, 1650-1653.
31. Vilardo, E., Nachbagauer, C, Buzet, A., Taschner, A., Holzmann, J. and Rossmanith, W. (2012) A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase-extensive moonlighting in mitochondrial tRNA biogenesis. Nucleic Acids Res., 40, 11583-11593.
32. Motorin, Y and Helm, M. (2011) RNA nucleotide methylation. WIREs RNA, 2, 611-631.
33. Deutschmann, A.J., Amberger, A., Zavadil, C, Steinbeisser, H., Mayr, J.A., Feichtinger, R.G, Oerum, S., Yue, W.W. and Zschocke, J. (2014) Mutation or knock-down of 17ß-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. Hum. Mol. Genet., 23, 3618-3628.
34. Chatfeld, K.C, Coughlin, CR.2nd, Friederich, M.W., Gallagher, R.C, Hesselberth, J.R., Lovell, M.A., Ofman, R., Swanson, M.A., Thomas, J.A., Wanders, R.J.A. et al. (2015) Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion, 21, 1-10.
35. Ofman, R., Ruiter, J.PN, Feenstra, M., Duran, M., Poll-The, B.T, Zschocke, J., Ensenauer, R., Lehnert, W., Sass, J.O., Sperl, W. et al (2003) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase defciency is caused by mutations in the HADH2 gene. Am. J. Hum. Genet., 72, 1300-1307.
36. Wittig, I., Braun, H.P and Schägger, H. (2006) Blue native PAGE. Nat. Protoc, 1, 418-428.
37. Vollers, S.S., Teplow, D.B. and Bitan, G (2005) Determination of Peptide oligomerization state using rapid photochemical crosslinking. Methods Mol. Biol, 299, 11-18.
38. Schrödinger, L.L.C (2010) The PyMOL Molecular Graphics System, Version 1.3r1.
39. Binstock, J.F. and Schulz, H. (1981) Fatty acid oxidation complex from Escherichia coli. Methods Enzymol., 71, 403-411.
40. Rossmanith, W., Tullo, A., Potuschak, T, Karwan, R. and Sbisà, E. (1995) Human mitochondrial tRNA processing. J. Biol. Chem., 270, 12885-12891.
41. He, X.-Y, Schulz, H. and Yang, S.-Y (1998) A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to an amyloid ß-peptide-binding protein involved in Alzheimer's disease. J. Biol. Chem., 273, 10741-10746.
42. Kissinger, CR., Rejto, PA., Pelletier, L.A., Thomson, J.A., Showalter, R.E., Abreo, M.A., Agree, CS., Margosiak, S., Meng, J.J., Aust, R.M. et al. (2004) Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics. J. Mol. Biol, 342, 943-952.
43. Rötig, A. (2011) Human diseases with impaired mitochondrial protein synthesis. Biochim. Biophys. Acta, 1807, 1198-1205.
44. Pearce, S., Nezich, CL. and Spinazzola, A. (2013) Mitochondrial diseases: translation matters. Mol. Cell. Neurosci, 55, 1-12.