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Specialty: Drugs & Pharmacology
Procedure: Skin Biopsy
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Total 2 results found since Jan 2013.
Metformin protects fibroblasts from patients with GNE myopathy by restoring autophagic flux via an AMPK/mTOR-independent pathway
Biomed Pharmacother. 2023 May 29;164:114958. doi: 10.1016/j.biopha.2023.114958. Online ahead of print.ABSTRACTUDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive disease characterized by rimmed vacuoles (RVs). Previous studies have shown that metformin protects against several neuromuscular disorders. In the present study, we summarize the clinical features of three GNE patients with the p.D207V mutation. The pathogenesis of GNE myopathy is described, and the significance of metformin in this disease is observed. Skin biopsy-derived fibroblasts from patients with GNE myop...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - June 1, 2023 Category: Drugs & Pharmacology Authors: Tongtong Zhang Xiang Yin Xuefan Yu Ren Shang Liuzhe Lu Jing Miao Source Type: research
