Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations

Human Molecular Genetics
Mattéa J FinelliKay E Davies

Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of motor neuron-like cells. Mutations in the RNA- and DNA-binding proteins, fused in sarcoma (FUS) and transactive response DNA-binding protein 43 kDa (TDP-43), are responsible for 5-10% of familial and 1% of sporadic ALS cases. Importantly, aggregation of misfolded FUS or TDP-43 is also characteristic of several neurodegenerative disorders in addition to ALS, including frontotemporal lobar degeneration. Moreover, splicing deregulation of FUS and TDP-43 target genes as well as mitochondrial abnormalities are associated with disease-causing FUS and TDP-43 mutants. While progress has been made to understand the functions of these proteins, the exact mechanisms by which FUS and TDP-43 cause ALS remain unknown. Recently, we discovered that, in addition to being up-regulated in spinal cords of ALS patients, the novel protein oxidative resistance 1 (Oxr1) protects neurons from oxidative stress-induced apoptosis. To further understand the function of Oxr1, we present here the first interaction study of the protein. We show that Oxr1 binds to Fus and Tdp-43 and that certain ALS-associated mutations in Fus and Tdp-43 affect their Oxr1-binding pr...Continue Reading

References

Jan 1, 1986·Journal of Biochemistry·S Ohta, Y Kagawa
Dec 15, 1996·Experimental Cell Research·S NakielnyG Dreyfuss
Mar 28, 1998·The Journal of Biological Chemistry·T Noda, Y Ohsumi
Dec 17, 1998·Journal of Neurology, Neurosurgery, and Psychiatry·T MeyerA C Ludolph
Mar 14, 2000·The Journal of Biological Chemistry·J TangH R Herschman
Dec 13, 2000·Proceedings of the National Academy of Sciences of the United States of America·M R VolkertD E Housman
Mar 19, 2003·The Journal of Cell Biology·Janice RobertsonWalter E Mushynski
Apr 2, 2004·The Journal of Biological Chemistry·Donghang ChengMark T Bedford
Apr 3, 2004·Molecular and Cellular Biology·Nathan A Elliott, Michael R Volkert
Aug 24, 2004·The Journal of Biological Chemistry·François Gros-LouisJean-Pierre Julien
Dec 6, 2006·Free Radical Biology & Medicine·Joana Paes de Faria, Lisete Fernandes
Mar 30, 2007·BMC Cell Biology·Mathieu DurandMichael R Volkert
Jun 21, 2007·PloS One·Simon MelovAshley I Bush
Mar 1, 2008·Science·Jemeen SreedharanChristopher E Shaw
Sep 19, 2008·Molecular Biology of the Cell·Mireille KhachoStephen Lee
Apr 17, 2009·Molecular Biology of the Cell·Sophie MokasRachid Mazroui
Aug 14, 2009·Brain : a Journal of Neurology·Manuela NeumannIan R A Mackenzie
Sep 22, 2009·Journal of Neurochemistry·Claudia ColombritaAntonia Ratti
Oct 3, 2009·Journal of Neuroscience Research·Makoto UrushitaniIkuo Tooyama
Oct 23, 2009·Annals of Human Genetics·Paul N ValdmanisGuy A Rouleau
Jan 15, 2010·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Sami J BarmadaSteven Finkbeiner
Apr 20, 2010·Human Molecular Genetics·Clotilde Lagier-TourenneDon W Cleveland
Jun 15, 2010·Muscle & Nerve·Rosa RademakersIan R A Mackenzie
Jun 23, 2010·Journal of Cellular Physiology·Massimiliano MonticonePatrizio Castagnola
Jun 26, 2010·Journal of Medical Genetics·Stéphanie MillecampsVincent Meininger
Jul 8, 2010·The EMBO Journal·Dorothee DormannChristian Haass
Jul 14, 2010·Archives of Neurology·Veronica CrugnolaMaurizio Moggio
Aug 13, 2010·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Ya-Fei XuLeonard Petrucelli
Nov 11, 2010·Journal of Neurochemistry·Owen A BradyFenghua Hu
Dec 29, 2010·Biochemical and Biophysical Research Communications·Kun DuRiki Kurokawa
Jan 25, 2011·Human Molecular Genetics·Karli K McDonaldChristine Vande Velde
Mar 2, 2011·Nature Neuroscience·James R TollerveyJernej Ule

❮ Previous
Next ❯

Citations

Jan 6, 2016·Acta Neuropathologica·J Gavin DaigleUdai Bhan Pandey
Apr 3, 2016·Free Radical Biology & Medicine·Yixing WuPeter L Oliver
Jun 7, 2016·Neuropharmacology·Jong-Min LeeGilles J Guillemin
Jul 16, 2016·Biochemical and Biophysical Research Communications·Maria Teresa CarrìMauro Cozzolino
Sep 21, 2016·Expert Review of Neurotherapeutics·Stéphane MathisGwendal Le Masson
Nov 21, 2018·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
Sep 8, 2017·Frontiers in Molecular Neuroscience·Nandini Ramesh, Udai Bhan Pandey
Aug 31, 2018·Acta Neuropathologica Communications·L McGurkN M Bonini
May 26, 2018·Neurochemical Research·Kazuki OhuchiMasamitsu Shimazawa
Jul 15, 2017·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Mattéa J Finelli, Peter L Oliver
Aug 31, 2017·Neural Regeneration Research·Bilal Khalil, Jean-Charles Liévens
Jan 2, 2021·Frontiers in Neuroscience·Michael R Volkert, David J Crowley
Mar 27, 2020·Cell Reports·Mingyi YangMagnar Bjørås
Mar 13, 2021·Cellular and Molecular Life Sciences : CMLS·Kazuhide AsakawaKoichi Kawakami
May 1, 2021·Biomedicines·Chantal B Lucini, Ralf J Braun
Sep 11, 2021·Investigative Ophthalmology & Visual Science·Bhubanananda SahuMichael Volkert
Oct 10, 2021·American Journal of Human Genetics·Bryony BraschiElspeth A Bruford

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Methods Mentioned

BETA
PCR
co-immunoprecipitation
Co-IP
biopsy
transfection
transfections
immunoprecipitation

Software Mentioned

Ingenuity
ImageJ FIJI
Allen
Ingenuity Pathway Analysis
ImageJ
LAS AF
NIH

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