Pharmacological Therapy

For sarcoglicanopathies

2021 International LGMD Conference

| Drug therapy

Intervention by Dr. Sandonà at the 2021 LGMD International Conference on 20 September from 1.36.40 to 2.00.10


Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery

| Drug therapy

Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D

| Drug therapy

Hum Mol Genet . 2018 Mar 15;27(6):969-984. doi: 10.1093/hmg/ddy013.

Marcello Carotti 1, Justine Marsolier 2 3, Michela Soardi 1, Elisa Bianchini 1 4, Chiara Gomiero 5, Chiara Fecchio 1, Sara F Henriques 2 3, Romeo Betto 6, Roberta Sacchetto 5, Isabelle Richard 2 3, Dorianna Sandonà 1

Affiliations expand
PMID: 29351619 PMCID: PMC5886177 DOI: 10.1093/hmg/ddy013
Free PMC article

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

| Drug therapy

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

Elisa Bianchini 1, Marina Fanin 2, Kamel Mamchaoui 3, Romeo Betto 4, Dorianna Sandonà 5

Affiliations expand
PMID: 24565866 PMCID: PMC4065151 DOI: 10.1093/hmg/ddu088
Free PMC article

GFB First National congress

| Drug therapy

Dr. Sandonà at GFB First National congress on 19th April 2013


Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.

| Drug therapy

Expert Rev Mol Med . 2009 Sep 28;11:e28. doi: 10.1017/S1462399409001203.

Sandonà D, Betto R.
Expert Rev Mol Med. 2009 Sep 28;11:e28. doi: 10.1017/S1462399409001203.
PMID: 19781108 Free PMC article. Review.

Sarcoglycanopathies are a group of autosomal recessive muscle-wasting disorders caused by genetic
defects in one of four cell membrane glycoproteins, alpha-, beta-, gamma- or delta-sarcoglycan. ...This
review summarises the etiopathogenesis of sarcoglycanopathies …

+39 328 0075986 This email address is being protected from spambots. You need JavaScript enabled to view it.

Via Civasca 112 23018 Talamona - SO  Italia

Made by Betsoft