Desmin-related cardiomyopathy in transgenic mice: a cardiac amyloidosis

Proceedings of the National Academy of Sciences of the United States of America
Atsushi SanbeJeffrey Robbins

Abstract

An R120G missense mutation in the small heat shock protein alpha-B-crystallin (CryAB(R120G)) causes desmin-related cardiomyopathy (DRM). DRM is characterized by the formation of aggregates containing CryAB and desmin, and it can be recapitulated in transgenic mice by cardiac-specific expression of the mutant protein. In this article, we show that expression of CryAB(R120G) leads to the formation of electron-dense bodies characteristic of the DRMs and identify these bodies as aggresomes, which are characteristic of the neurodegenerative diseases. Cardiomyocytes transfected with adenovirus containing CryAB(R120G) establish the necessity and sufficiency of CryAB(R120G) expression for aggresome formation. The commonality of these aggresomes with oligomeric protein aggregates found in the amyloid-related degenerative diseases was corroborated by the presence of high levels of amyloid oligomers that may represent a primary toxic species in the amyloid diseases. These oligomeric amyloid intermediates are present also in cardiomyocytes derived from many human dilated and hypertrophic cardiomyopathies.

References

Nov 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·J Horwitz
Aug 1, 1992·Circulation Research·F BennardiniM Chiesi
May 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·R KlemenzA Aoyama
Jan 1, 1990·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·T IwakiJ E Goldman
Jun 5, 1980·The New England Journal of Medicine·G G Glenner
Apr 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·T D Ingolia, E A Craig
Oct 1, 1984·Cell·J Piatigorsky
Jun 12, 1980·The New England Journal of Medicine·G G Glenner
Feb 4, 1997·Proceedings of the National Academy of Sciences of the United States of America·J P BradyE F Wawrousek
Apr 16, 1998·Proceedings of the National Academy of Sciences of the United States of America·T C HeB Vogelstein
Aug 14, 1998·Clinical Cardiology·R E McCarthy, E K Kasper
Dec 29, 1998·The Journal of Cell Biology·J A JohnstonR R Kopito
May 26, 1999·Proceedings of the National Academy of Sciences of the United States of America·M P BovaJ Horwitz
Dec 21, 2000·Trends in Cell Biology·R R Kopito
Mar 21, 2001·EMBO Reports·R R Kopito, R Sitia
May 4, 2001·The American Journal of Medicine·K F Adams
Nov 3, 2001·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·K TanakaY Mizuno
Apr 12, 2002·Journal of Molecular and Cellular Cardiology·Nikola GolenhofenDetlev Drenckhahn
May 16, 2002·Traffic·Rafael Garcia-MataElizabeth Sztul
Dec 7, 2002·The Journal of Biological Chemistry·John den EngelsmanWilbert C Boelens
Dec 11, 2002·Circulation·Donald M Lloyd-JonesUNKNOWN Framingham Heart Study
Jan 18, 2003·The Journal of Clinical Investigation·Kenneth R Chien
Jan 30, 2003·Journal of Cardiac Failure·Xuejun WangJeffrey Robbins
Feb 22, 2003·Chemistry : a European Journal·Tomoyuki KogaMasahiro Higuchi
Mar 5, 2003·Cellular and Molecular Life Sciences : CMLS·C Hetz, C Soto
Aug 30, 2003·Proceedings of the National Academy of Sciences of the United States of America·J Andrew AquilinaCarol V Robinson
Sep 3, 2003·Journal of Neurochemistry·Adam S CrystalVirginia M-Y Lee
Dec 16, 2003·Current Opinion in Rheumatology·Joel N Buxbaum

❮ Previous
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Citations

Jan 18, 2006·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Derk FrankNorbert Frey
Jan 21, 2011·Pediatric Cardiology·Joseph A Hill
Sep 4, 2008·Expert Reviews in Molecular Medicine·Isidre Ferrer, Montse Olivé
Oct 29, 2008·Oncogene·A Hishiya, S Takayama
Feb 1, 2013·The New England Journal of Medicine·Monte S Willis, Cam Patterson
Aug 22, 2009·Cardiovascular Research·Huabo Su, Xuejun Wang
Nov 26, 2010·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Jie LiXuejun Wang
Mar 27, 2013·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Jayne L ElliottRoy A Quinlan
Aug 30, 2005·Annual Review of Genomics and Human Genetics·Ferhaan AhmadChristine E Seidman
May 26, 2006·Annual Review of Genomics and Human Genetics·Niels GregersenJane H Christensen
Jul 26, 2011·American Journal of Physiology. Heart and Circulatory Physiology·Patrick M McLendon, Jeffrey Robbins
Sep 29, 2011·American Journal of Physiology. Heart and Circulatory Physiology·Xuejun WangSaul R Powell
Dec 9, 2008·Circulation Research·Beverly A Rothermel, Joseph A Hill
Apr 3, 2010·Circulation Research·Alina MaloyanJeffrey Robbins
May 28, 2011·Circulation Research·J Scott PattisonJeffrey Robbins
Jun 11, 2011·Circulation Research·Qingwen ZhengXuejun Wang
May 21, 2008·Circulation·J Scott PattisonJeffrey Robbins
Feb 18, 2010·Circulation·Jaime M PredmoreSharlene M Day
Feb 3, 2006·The Journal of Clinical Investigation·Volker LuiblJeannie Chen
Jul 10, 2009·The Journal of Clinical Investigation·Lev G Goldfarb, Marinos C Dalakas
Oct 23, 2008·Molecular Neurodegeneration·Thuzar M ShinJeannie Chen
Nov 2, 2011·Biological & Pharmaceutical Bulletin·Atsushi Sanbe
Nov 1, 2007·Future Cardiology·Derk FrankNorbert Frey
Jul 16, 2008·Proceedings of the National Academy of Sciences of the United States of America·Paul TannousJoseph A Hill
Mar 29, 2007·Proceedings of the National Academy of Sciences of the United States of America·Alina MaloyanJeffrey Robbins
Jan 23, 2014·Acta Biochimica Et Biophysica Sinica·Xinmiao Fu
Sep 13, 2005·Proceedings of the National Academy of Sciences of the United States of America·Atsushi SanbeJeffrey Robbins
Aug 4, 2011·European Heart Journal·Daniel Jacoby, William J McKenna
Feb 8, 2013·The Journal of Biological Chemistry·Atsushi SanbeAkito Tanoue
Jan 6, 2016·International Journal of Molecular Sciences·Man Liu, Samuel C Dudley
Feb 5, 2015·Cell Metabolism·Zhao V Wang, Joseph A Hill
Dec 3, 2014·Journal of Molecular and Cellular Cardiology·Tatiana N SidorovaKatherine T Murray
Aug 6, 2014·Biochimica Et Biophysica Acta·Changhua Wang, Xuejun Wang

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