Browsing Centre for Genomics and Child Health by Author "Yang, F"
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A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of alpha-dystroglycan
Kim, J; Lana, B; Torelli, S; Ryan, D; Catapano, F; Ala, P; Luft, C; Stevens, E; Konstantinidis, E; Louzada, S (2019-11-05) -
Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections.
Paredes-Redondo, A; Harley, P; Maniati, E; Ryan, D; Louzada, S; Meng, J; Kowala, A; Fu, B; Yang, F; Liu, P (American Association for the Advancement of Science, 2021-09-10)Duchenne muscular dystrophy (DMD) is caused by dystrophin gene mutations leading to skeletal muscle weakness and wasting. Dystrophin is enriched at the neuromuscular junction (NMJ), but how NMJ abnormalities contribute to ...