Associated Papers
Repairing the defective folding of alpha-sarcoglycan is needed to promote myogenic cell engraftment in 3D artificial muscle models of LGMDR3.
Maghin E et al.
Skeletal Muscle, 2025
Detailed immune cell profiling of paediatric patient with limb girdle muscular dystrophy R3.
Coles CA et al.
Journal of the Neurological Sciences, 2025
The novel use of the CFTR corrector C17 in muscular dystrophy: pharmacological profile and in vivo efficacy.
Benetollo A et al.
Biochemical Pharmacology, 2025
Synthesis and Evaluation of Bithiazole Derivatives As Potential α-Sarcoglycan Correctors.
Ribaudo G et al.
Acs Medicinal Chemistry Letters, 2023
CFTR corrector C17 is effective in muscular dystrophy, in vivo proof of concept in LGMDR3.
Scano M et al.
Human Molecular Genetics, 2022
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery.
Carotti M et al.
International Journal of Molecular Sciences, 2020
Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D.
Carotti M et al.
Human Molecular Genetics, 2018
Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.
Bianchini E et al.
Human Molecular Genetics, 2014
Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.
Diniz G et al.
Pediatric Neurology, 2014
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
Soheili T et al.
Human Mutation, 2012
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M et al.
European Journal of Human Genetics : Ejhg, 2008
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