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Therapeutic genetics and disease modeling in LAMA2-CMD
Therapeutic genetics and disease modeling in LAMA2-CMD

Ferroptosis is mediated by lipid peroxidation of phospholipids containing polyunsaturated fatty acyl moieties. Glutathione, the key cellular antioxidant capable of inhibiting lipid peroxidation via the activity of the enzyme glutathione peroxidase 4 (GPX-4), is generated directly from the sulfur-...

2023-01-11 | MTBLS5959 | MetaboLights
Efficient LAMA1 gene activation by epigenome editing as a therapeutic 2 approach for LAMA2-CMD
In this study, we aim to identify common miRNA signatures in the pathogenesis of different NMD groups (Duchenne Muscular Dystrophy, Megaconial Congenital Muscular Dystrophy (CMD), Ullrich CMD and alpha-dystroglycanopathy) (abbreviated as D, M, U, and A, respectively) each caused by mutations in diff...
ORGANISM(S): Homo sapiens 
Epigenome editing technology holds great promise for treating diverse genetic disorders. Here we demonstrate epigenetic activation of the LAMA1 gene for the treatment of LAMA2-CMD, a severe congenital muscular dystrophy (CMD) caused by biallelic mutations in the LAMA2 gene. LAMA1 is a sister homolog...
ORGANISM(S): Mus musculus 
2026-06-01 | GSE299372 | GEO
Profiling skeletal muscle microRNAs in laminin alpha 2 chain-deficient congenital muscular dystrophy
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