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

Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects

(2009) Dorianna Sandonà et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: High prevalence of 525del T

(2009) SatishV Khadilkar et al.   NEUROLOGY INDIA

Inhibition of Proteasome Activity Promotes the Correct Localization of Disease-Causing α-Sarcoglycan Mutants in HEK-293 Cells Constitutively Expressing β-, γ-, and δ-Sarcoglycan

(2008) Stefano Gastaldello et al.   AMERICAN JOURNAL OF PATHOLOGY

Revised spectrum of mutations in sarcoglycanopathies

(2008) Madiha Trabelsi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice

(2008) Kazuhiro Kobuke et al.   HUMAN MOLECULAR GENETICS

Mannosidase I inhibition rescues the human α-sarcoglycan R77C recurrent mutation

(2008) Marc Bartoli et al.   HUMAN MOLECULAR GENETICS