Display options
Share it on

Front Mol Biosci. 2016 Oct 07;3:65. doi: 10.3389/fmolb.2016.00065. eCollection 2016.

Effects of a Mutation in the .

Frontiers in molecular biosciences

Anne S Bie, Paula Fernandez-Guerra, Rune I D Birkler, Shahar Nisemblat, Dita Pelnena, Xinping Lu, Joshua L Deignan, Hane Lee, Naghmeh Dorrani, Thomas J Corydon, Johan Palmfeldt, Liga Bivina, Abdussalam Azem, Kristin Herman, Peter Bross

Affiliations

  1. Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital Aarhus, Denmark.
  2. Department of Biochemistry & Molecular Biology, Tel Aviv University Tel Aviv, Israel.
  3. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California, Los Angeles Los Angeles, CA, USA.
  4. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California, Los AngelesLos Angeles, CA, USA; Department of Pediatrics, David Geffen School of Medicine at University of California, Los AngelesLos Angeles, CA, USA.
  5. Department of Biomedicine, Aarhus University Aarhus, Denmark.
  6. Division of Genomic Medicine, Department of Pediatrics, UC Davis Health System Sacramento, CA, USA.

PMID: 27774450 PMCID: PMC5053987 DOI: 10.3389/fmolb.2016.00065

Abstract

We here report molecular investigations of a missense mutation in the

Keywords: De novo mutations; mitochondrial proteins; molecular chaperones; neurological disorders; oxidative stress; protein folding

References

  1. Antioxid Redox Signal. 2013 Oct 20;19(12):1420-45 - PubMed
  2. Trends Biochem Sci. 2016 Jan;41(1):62-76 - PubMed
  3. Front Mol Biosci. 2016 Aug 31;3:49 - PubMed
  4. Cold Spring Harb Perspect Biol. 2011 Aug 01;3(8):a004374 - PubMed
  5. J Neurosci. 2010 Nov 10;30(45):15102-12 - PubMed
  6. Hum Mutat. 2007 Jan;28(1):19-26 - PubMed
  7. Antioxid Redox Signal. 2014 Apr 1;20(10):1655-70 - PubMed
  8. Eur J Biochem. 2001 Jun;268(12):3465-72 - PubMed
  9. Trends Biochem Sci. 2004 Nov;29(11):593-600 - PubMed
  10. EMBO J. 1988 Apr;7(4):1147-51 - PubMed
  11. Mol Genet Genomic Med. 2014 Sep;2(5):383-92 - PubMed
  12. Free Radic Biol Med. 2005 Jun 1;38(11):1458-70 - PubMed
  13. Cell. 1997 Aug 8;90(3):491-500 - PubMed
  14. Nat Rev Genet. 2012 Jul 18;13(8):565-75 - PubMed
  15. FEMS Microbiol Rev. 2009 Jul;33(4):785-800 - PubMed
  16. Curr Top Med Chem. 2012;12(22):2491-503 - PubMed
  17. Trends Biotechnol. 1990 Apr;8(4):93-8 - PubMed
  18. Free Radic Res. 2014 Feb;48(2):168-79 - PubMed
  19. Trends Mol Med. 2014 May;20(5):282-92 - PubMed
  20. PLoS One. 2013;8(1):e53909 - PubMed
  21. Gene. 1997 Sep 1;196(1-2):9-17 - PubMed
  22. J Biol Chem. 1994 Apr 8;269(14):10304-11 - PubMed
  23. Mol Genet Metab. 2014 Mar;111(3):360-8 - PubMed
  24. Cell. 2013 Oct 24;155(3):502-4 - PubMed
  25. Proc Natl Acad Sci U S A. 1992 Apr 15;89(8):3394-8 - PubMed
  26. J Biol Chem. 1995 Jan 27;270(4):1899-907 - PubMed
  27. J Biol Chem. 2008 Jun 6;283(23):15694-700 - PubMed
  28. Proc Natl Acad Sci U S A. 2015 May 12;112(19):6044-9 - PubMed
  29. Nat Protoc. 2006;1(6):2527-35 - PubMed
  30. Cell Stress Chaperones. 2009 Sep;14(5):509-19 - PubMed
  31. J Biol Chem. 1992 Dec 25;267(36):26004-10 - PubMed
  32. N Engl J Med. 2012 Nov 15;367(20):1921-9 - PubMed
  33. Nucleic Acids Res. 2007 Jul;35(Web Server issue):W473-6 - PubMed
  34. J Biol Chem. 1994 Feb 11;269(6):4401-8 - PubMed
  35. Neuroscience. 2008 May 2;153(2):474-82 - PubMed
  36. J Biol Chem. 2009 Oct 9;284(41):28198-203 - PubMed
  37. Genome Res. 2001 May;11(5):863-74 - PubMed
  38. Cell. 1992 Oct 2;71(1):107-18 - PubMed
  39. Cell Stress Chaperones. 2010 Nov;15(6):851-63 - PubMed
  40. Cardiovasc Res. 2008 Nov 1;80(2):280-9 - PubMed
  41. Am J Hum Genet. 2002 May;70(5):1328-32 - PubMed
  42. Nature. 1989 Feb 16;337(6208):620-5 - PubMed
  43. Neurobiol Dis. 2013 Jun;54:12-23 - PubMed
  44. Am J Hum Genet. 2008 Jul;83(1):30-42 - PubMed
  45. JAMA. 2014 Nov 12;312(18):1880-7 - PubMed
  46. J Mol Biol. 2007 Sep 21;372(3):774-97 - PubMed
  47. Hum Genet. 2016 Jun;135(6):615-23 - PubMed
  48. JIMD Rep. 2016;27:17-26 - PubMed
  49. PLoS One. 2007 Sep 12;2(9):e874 - PubMed
  50. J Mol Biol. 2013 May 13;425(9):1476-87 - PubMed
  51. Science. 2008 Feb 15;319(5865):916-9 - PubMed
  52. Science. 2013 Mar 15;339(6125):1328-31 - PubMed
  53. Mol Cell. 2001 Mar;7(3):627-37 - PubMed
  54. Nat Med. 2006 Mar;12(3):307-9 - PubMed
  55. Cell. 2005 Jul 29;122(2):209-20 - PubMed
  56. Q Rev Biophys. 2009 May;42(2):83-116 - PubMed
  57. Annu Rev Genomics Hum Genet. 2006;7:103-24 - PubMed

Publication Types