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Treatment with rapamycin reversed these impairments by downregulating the phosphorylated AKT/mTOR pathway and upregulating BNIP3, AMBRA1, and Parkin expression

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J Inherit Metab Dis 30(6):865879

244 Polymorphisms in these genes may lead to alterations in collagen synthesis, cross-linking, and fibril formation, resulting in weaker collagen fibers and an increased risk of ligament injuries

Ethics declarations Competing interests LNY has been on advisory boards or received honoraria or research grants from Allergan, Otsuka, DSP, Sanofi, Alkermes, Abbvie, GSK, Merck, Intracellular Therapies, Servier and Seuiris over the last 3 years