Search Results - "Benabides, Manon"
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Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III
Published in Stem cell research (01-10-2023)“…Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder characterized by a deficiency of glycogen debranching enzyme (GDE) leading to…”
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Identification of thiostrepton as a pharmacological approach to rescue misfolded alpha-sarcoglycan mutant proteins from degradation
Published in Scientific reports (06-05-2019)“…Limb-girdle muscular dystrophy type 2D (LGMD2D) is characterized by a progressive proximal muscle weakness. LGMD2D is caused by mutations in the gene encoding…”
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The Future of Regenerative Medicine: Cell Therapy Using Pluripotent Stem Cells and Acellular Therapies Based on Extracellular Vesicles
Published in Cells (Basel, Switzerland) (27-01-2021)“…The rapid progress in the field of stem cell research has laid strong foundations for their use in regenerative medicine applications of injured or diseased…”
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Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination
Published in Frontiers in pharmacology (27-04-2022)“…Limb-girdle muscular dystrophy type R3 (LGMD R3) is a rare genetic disorder characterized by a progressive proximal muscle weakness and caused by mutations in…”
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Skeletal Muscle Cells Derived from Induced Pluripotent Stem Cells: A Platform for Limb Girdle Muscular Dystrophies
Published in Biomedicines (16-06-2022)“…Limb girdle muscular dystrophies (LGMD), caused by mutations in 29 different genes, are the fourth most prevalent group of genetic muscle diseases. Although…”
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Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells
Published in Frontiers in cell and developmental biology (11-05-2023)“…Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in the gene encoding the glycogen debranching enzyme (GDE). The…”
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