Analysis of the human Atox 1 homologue in Wilson patients.

World Journal of Gastroenterology : WJG
Isabel SimonWolfgang Stremmel

Abstract

To analyze the metallochaperone antioxidant-1 (Atox1) gene sequence in Wilson disease patients. Mutation analysis of the four exons of the Atox1 gene including the intron- exon boundaries was performed in 63 Wilson disease patients by direct sequencing. From 63 selected patients no mutations were identified after the entire coding region including the intron- exon boundaries of Atox1 were sequenced. One known polymorphism within the Atox1 gene (5'UTR -99 T>C) in 31 (49%) of the Wilson patients as well as one previously undescribed variation (5'UTR -68 C>T) in 2 of the Wilson patients could be detected. Statistical analyses revealed that the existence of a variation within the Atox1- gene showed a tendency towards an earlier onset of the disease. Based on the data of this study, no major role can be attributed to Atox1 in the pathophysiology or clinical variation of Wilson disease.

References

Oct 1, 1979·Computers and Biomedical Research, an International Journal·M E WombleM L Tworek
Feb 1, 1995·Nature Genetics·G R ThomasD W Cox
Nov 30, 1993·Biochemical and Biophysical Research Communications·Y YamaguchiJ D Gitlin
May 1, 1996·The American Journal of Clinical Nutrition·M C Linder, M Hazegh-Azam
Apr 4, 1997·The Journal of Biological Chemistry·S J LinV C Culotta
Apr 4, 1997·The Journal of Biological Chemistry·L W KlompJ D Gitlin
May 30, 1997·The Journal of Biological Chemistry·D de SilvaJ Kaplan
Feb 12, 1998·Science·J S Valentine, E B Gralla
Jan 4, 1998·Journal of Gastroenterology and Hepatology·D W Cox
May 12, 1998·Journal of Hepatology·J L Gollan, T J Gollan
Feb 10, 1999·The American Journal of Physiology·M Schaefer, J D Gitlin
Mar 18, 1999·Advances in Experimental Medicine and Biology·V C CulottaJ Gitlin
Nov 11, 1999·Proceedings of the National Academy of Sciences of the United States of America·I HamzaJ D Gitlin
Jan 13, 2000·Proceedings of the Society for Experimental Biology and Medicine·G J Brewer
Feb 24, 2001·Journal of Hepatology·S M Riordan, R Williams
Jun 8, 2001·Proceedings of the National Academy of Sciences of the United States of America·I HamzaJ D Gitlin
May 4, 2004·The Journal of Steroid Biochemistry and Molecular Biology·Claudia C Gregorio-KingMark A Kirkland
Aug 26, 2006·Nature Clinical Practice. Neurology·Shyamal K Das, Kunal Ray
Jan 17, 2007·Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine·Chloe Singleton, Nick E Le Brun
Jun 15, 2007·Archives of Biochemistry and Biophysics·Svetlana LutsenkoUjwal Shinde
Sep 21, 2007·Biochimica Et Biophysica Acta·Faiza Hussain, Pernilla Wittung-Stafshede
Feb 5, 2008·The Journal of Biological Chemistry·Shinichi ItohTohru Fukai

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Citations

Dec 6, 2011·Journal of Inherited Metabolic Disease·Radan BruhaPeter Ferenci
Nov 16, 2011·Current Gastroenterology Reports·Karl Heinz Weiss, Wolfgang Stremmel
Sep 4, 2012·Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology·S Suresh KumarEve A Roberts
Nov 30, 2011·Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine·Magdalena ArayaMiguel Arredondo
May 8, 2013·Neurologia i neurochirurgia polska·Tomasz Litwin, Anna Członkowska
Jan 14, 2016·Molecular Neurobiology·Rosanna SquittiCristian Bonvicini
Jun 9, 2012·Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (GMS)·Muriel BostC M R Wilson
Jun 8, 2011·Liver International : Official Journal of the International Association for the Study of the Liver·Beom H LeeHan-Wook Yoo
Oct 21, 2010·Liver International : Official Journal of the International Association for the Study of the Liver·Radan BruhaPeter Ferenci
Oct 21, 2014·Movement Disorders : Official Journal of the Movement Disorder Society·Karolina DzieżycAnna Członkowska
Jul 13, 2016·BMC Genomics·Ayca Cankorur-CetinkayaBetul Kirdar
Jun 11, 2020·Antioxidants·Stefanie D BoydDuane D Winkler
Sep 8, 2018·Nature Reviews. Disease Primers·Anna CzłonkowskaMichael L Schilsky
Jan 17, 2020·Balkan Journal of Medical Genetics : BJMG·A ZarinaL Gailite
Mar 7, 2021·Animals : an Open Access Journal From MDPI·Ronald Jan Corbee, Louis C Penning
Aug 15, 2021·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·May T MaungTeresita Padilla-Benavides

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