Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.

Proceedings of the National Academy of Sciences of the United States of America
Michael J JurynecDavid Jonah Grunwald

Abstract

Mutations affecting the seemingly unrelated gene products, SepN1, a selenoprotein of unknown function, and RyR1, the major component of the ryanodine receptor intracellular calcium release channel, result in an overlapping spectrum of congenital myopathies. To identify the immediate developmental and molecular roles of SepN and RyR in vivo, loss-of-function effects were analyzed in the zebrafish embryo. These studies demonstrate the two proteins are required for the same cellular differentiation events and are needed for normal calcium fluxes in the embryo. SepN is physically associated with RyRs and functions as a modifier of the RyR channel. In the absence of SepN, ryanodine receptors from zebrafish embryos or human diseased muscle have altered biochemical properties and have lost their normal sensitivity to redox conditions, which likely accounts for why mutations affecting either factor lead to similar diseases.

References

Jul 1, 1988·Molecular and Cellular Biochemistry·J J Abramson, G Salama
Sep 22, 2000·The Journal of Biological Chemistry·W FengI N Pessah
Sep 20, 2001·Current Opinion in Neurology·N TubridyB Eymard
May 9, 2002·Molecular and Cellular Biology·Dolph L Hatfield, Vadim N Gladyshev
Sep 19, 2002·Protein Science : a Publication of the Protein Society·Dmitri E Fomenko, Vadim N Gladyshev
Nov 20, 2002·Frontiers in Bioscience : a Journal and Virtual Library·Gerhard Meissner
Apr 18, 2003·Human Molecular Genetics·Nathalie PetitPascale Guicheney
Aug 14, 2003·Gene Expression Patterns : GEP·Christine ThisseAlain Lescure
Mar 5, 2004·Journal of Neurology·Vladimiro PietriniVincenzo Sorrentino
Oct 7, 2004·Developmental Biology·Estelle HirsingerMonte Westerfield
Jun 18, 2005·Neuromuscular Disorders : NMD·A D'AmicoH Topaloglu
Jul 5, 2005·Developmental Cell·Bhaskarjyoti SarmahSusan R Wente
Aug 24, 2005·Cell Calcium·Susan L Hamilton
Oct 27, 2005·Journal of Cell Science·Caroline BrennanRachel Ashworth
Nov 16, 2005·Proceedings of the National Academy of Sciences of the United States of America·Johann SchredelsekerManfred Grabner
Nov 30, 2005·Cellular and Molecular Life Sciences : CMLS·M RederstorffA Lescure
Dec 21, 2005·Annals of Neurology·Nigel F ClarkeKathryn N North
Sep 23, 2006·Physiology·Behzad Moghadaszadeh, Alan H Beggs
Oct 21, 2006·Biochemical Society Transactions·S Zissimopoulos, F A Lai
Oct 28, 2006·Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution·John H Postlethwait
Nov 25, 2006·Experimental Cell Research·Marzanna DeniziakAlain Lescure
Jan 4, 2007·The Journal of Biological Chemistry·Spyros ZissimopoulosF Anthony Lai
Jan 6, 2007·Journal of Neuropathology and Experimental Neurology·Muriel HerasseAna Ferreiro
Apr 19, 2007·Nature Reviews. Genetics·Graham J Lieschke, Peter D Currie
May 1, 2007·Antioxidants & Redox Signaling·Benjamin S MarinovJonathan J Abramson
May 8, 2007·Brain : a Journal of Neurology·Haiyan ZhouFrancesco Muntoni
Nov 16, 2007·Proceedings of the National Academy of Sciences of the United States of America·Elena ZvaritchDavid H Maclennan

❮ Previous
Next ❯

Citations

Apr 29, 2009·Cellular and Molecular Life Sciences : CMLS·M A Reeves, P R Hoffmann
Apr 25, 2012·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Perrine CastetsValérie Allamand
Mar 7, 2012·Current Neurology and Neuroscience Reports·Jessica R NanceCarsten G Bönnemann
Sep 15, 2009·Antioxidants & Redox Signaling·Valentina A ShchedrinaVadim N Gladyshev
Oct 7, 2009·Antioxidants & Redox Signaling·Marcus Conrad, Ulrich Schweizer
Mar 20, 2009·Human Molecular Genetics·Philip W Ingham
Dec 7, 2010·Human Molecular Genetics·Perrine CastetsValérie Allamand
Sep 10, 2013·Toxicological Sciences : an Official Journal of the Society of Toxicology·Yassaman NiknamIsaac N Pessah
Jun 15, 2011·Current Opinion in Pediatrics·Ulrich SchweizerLutz Schomburg
Aug 25, 2009·BMC Developmental Biology·Perrine CastetsPascale Guicheney
Sep 19, 2009·Anesthesia and Analgesia·Werner KlinglerPhilip M Hopkins
Jul 10, 2010·Disease Models & Mechanisms·Michael J Jurynec, David Jonah Grunwald
Aug 1, 2012·Medical Science Monitor : International Medical Journal of Experimental and Clinical Research·Benjamin S WeeksDeborah Cooperstein
Apr 2, 2013·Biochimica Et Biophysica Acta·Anna Lenart, Krzysztof Pawłowski
Sep 30, 2014·Current Opinion in Chemical Biology·Norman Metanis, Donald Hilvert
Aug 30, 2014·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·James J DowlingRobert T Dirksen
Jul 1, 2014·Biological Trace Element Research·Matthew W PittsMarla J Berry
Aug 13, 2014·Journal of the American Medical Directors Association·You-Ling ChenKuo-Chin Huang
Nov 3, 2011·Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine·Jiu-li ZhangShi-wen Xu
Mar 16, 2012·Brain : a Journal of Neurology·James J DowlingAna Ferreiro
Jan 18, 2013·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Behzad MoghadaszadehAlan H Beggs
Apr 25, 2012·Cellular and Molecular Life Sciences : CMLS·Takaaki Matsui, Yasumasa Bessho
Oct 17, 2012·Trends in Molecular Medicine·Jean H HwangSusan Treves
Dec 17, 2011·Seminars in Pediatric Neurology·Heinz JungbluthFrancesco Muntoni
Oct 13, 2010·Journal of the Neurological Sciences·R CaglianiG P Comi
Nov 26, 2009·Pharmacology & Therapeutics·Isaac N PessahPamela J Lein
Mar 17, 2009·Biochimica Et Biophysica Acta·Alain LescureValérie Allamand
Jan 26, 2010·Biochemical Pharmacology·John J Mackrill
Jun 27, 2009·Annals of Neurology·Sandrine ArbogastAna Ferreiro
Aug 19, 2015·Biological Trace Element Research·Mengyao GuoGanzhen Deng
Apr 27, 2013·Paediatric Anaesthesia·Robert P Brislin, Mary C Theroux
May 15, 2015·European Journal of Medicinal Chemistry·Saad ShaabanLudger A Wessjohann
Mar 24, 2016·Developmental Cell·Kazuyuki HoshijimaDavid Jonah Grunwald
Jul 15, 2015·Antioxidants & Redox Signaling·Jun Liu, Sharon Rozovsky

❮ Previous
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