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
Ubiquitination by HRD1 is essential for TLR3 trafficking and its innate immune signaling.
Zhao L et al.
Nature Communications, 2025
Genetic Deletion of the Purinergic Receptor P2rx7 Worsens the Phenotype of α‑Sarcoglycan Muscular Dystrophy.
Astigiano C et al.
Acs Pharmacology & Translational Science, 2025
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 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
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M et al.
Gene, 2024
Advanced therapeutic approaches in sarcoglycanopathies.
Scano M et al.
Current Opinion in Pharmacology, 2024
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Modeling Sarcoglycanopathy in Danio rerio.
Dalla Barba F et al.
International Journal of Molecular Sciences, 2023
Synthesis and Evaluation of Bithiazole Derivatives As Potential α-Sarcoglycan Correctors.
Ribaudo G et al.
Acs Medicinal Chemistry Letters, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Genotype-phenotype correlations in alpha-sarcoglycanopathy: a systematic review.
Carson L et al.
Irish Journal of Medical Science, 2022
CFTR corrector C17 is effective in muscular dystrophy, in vivo proof of concept in LGMDR3.
Scano M et al.
Human Molecular Genetics, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination.
Hoch L et al.
Frontiers in Pharmacology, 2022
A Journey with LGMD: From Protein Abnormalities to Patient Impact.
Georganopoulou DG et al.
The Protein Journal, 2021
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Zaganas I et al.
Molecular Genetics and Metabolism Reports, 2020
[Sarcoglycanopathies: state of the art and therapeutic perspectives].
Fernández-Eulate G et al.
Medecine Sciences : M/s, 2020
Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports.
Dosi C et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J et al.
Brain : a Journal of Neurology, 2020
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
Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery.
Carotti M et al.
International Journal of Molecular Sciences, 2020
Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.
Oommen D et al.
Frontiers in Genetics, 2020
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L et al.
Clinical Genetics, 2019
Identification of thiostrepton as a pharmacological approach to rescue misfolded alpha-sarcoglycan mutant proteins from degradation.
Hoch L et al.
Scientific Reports, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
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
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
Reddy HM et al.
Muscle & Nerve, 2016
Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults.
Tarnopolsky M et al.
Neuromuscular Disorders : Nmd, 2015
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
Stehlíková K et al.
Bmc Neurology, 2014
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
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.
Sandonà D et al.
Expert Reviews in Molecular Medicine, 2009
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L et al.
Neuromuscular Disorders : Nmd, 2008
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M et al.
European Journal of Human Genetics : Ejhg, 2008
Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood.
Walter MC et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2004
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.
Moreira ES et al.
Journal of Medical Genetics, 2003
[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].
Lukás Z et al.
Ceskoslovenska Patologie, 2001
Heart involvement in muscular dystrophies due to sarcoglycan gene mutations.
Melacini P et al.
Muscle & Nerve, 1999
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Carrié A et al.
Journal of Medical Genetics, 1997
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.
Piccolo F et al.
Nature Genetics, 1995