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Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.


Bianchini E1, Fanin M2, Mamchaoui K3, Betto R4, Sandonà D5.

  • 1Department of Biomedical Sciences and.
  • 2Department of Neurosciences, University of Padova, Padova 35131, Italy.
  • 3Institut de Myologie, UPMC UM76, INSERM U974, CNRS UMR 7215, Paris 6, France.
  • 4Institute of Neuroscience, Consiglio Nazionale delle Ricerche, Padova 35131, Italy.
  • 5Department of Biomedical Sciences and  Diese E-Mail-Adresse ist gegen Spambots geschützt! JavaScript muss aktiviert werden, damit sie angezeigt werden kann. .

Hum Mol Genet. 2014 Jul 15;23(14):3746-58. doi: 10.1093/hmg/ddu088. Epub 2014 Feb 23.





Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.

Soheili T, Gicquel E, Poupiot J, N'Guyen L, Le Roy F, Bartoli M, Richard I.

Hum Mutat. 2012 Feb;33(2):429-39. doi: 10.1002/humu.21659. Epub 2011 Dec 22.

PMID: 22095924 [PubMed - indexed for MEDLINE]

Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: Evidence from a safety study with pilot efficacy measures in adult dystrophic patients.

D'Angelo MGGandossini SMartinelli Boneschi FSciorati CBonato SBrighina EComi GPTurconi ACMagri FStefanoni GBrunelli SBresolin N,Cattaneo DClementi E.

E. Medea Scientific Institute, Bosisio Parini, Italy. Pharmacol Res. 2012 Apr;65(4):472-9. Epub 2012 Jan 25.


A dual acting compound releasing nitric oxide (NO) and ibuprofen, NCX 320, shows significant therapeutic effects in a mouse model of muscular dystrophy.

Sciorati C, Miglietta D, Buono R, Pisa V, Cattaneo D, Azzoni E, Brunelli S, Clementi E.

Pharmacol Res. 2011 Sep;64(3):210-7. Epub 2011 May 12.





Co-administration of ibuprofen and nitric oxide is an effective experimental therapy for muscular dystrophy, with immediate applicability to humans.

Sciorati C, Buono R, Azzoni E, Casati S, Ciuffreda P, D'Angelo G, Cattaneo D, Brunelli S, Clementi E.

Br J Pharmacol. 2010 Jul;160(6):1550-60.





Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.

Bartoli M, Gicquel E, Barrault L, Soheili T, Malissen M, Malissen B, Vincent-Lacaze N, Perez N, Udd B, Danos O, Richard I.

Hum Mol Genet. 2008 May 1;17(9):1214-21. doi: 10.1093/hmg/ddn029. Epub 2008 Feb 5.

PMID:  18252745 [PubMed - indexed for MEDLINE]