Publications by authors named "Yanqi Ren"
Article Synopsis
- - Glycogen storage diseases (GSDs) are inherited disorders affecting glycogen metabolism, primarily in the liver, muscles, and heart, caused by genetic mutations that lead to deficiencies in specific proteins.
- - A study of 39 patients in China utilized next-generation sequencing to diagnose various GSD subtypes, revealing 20 cases of GSD-Ia, 4 of GSD-VI, and 15 of GSD IX, with several novel mutations identified in key genes.
- - The research highlights the rarity of hearing impairment in GSD Ia patients and suggests the need for careful monitoring of severity in GSD VI and IX cases, contributing to a better understanding of genotype-phenotype relationships in GSDs.
Background: Imbalance in energy regulation is a major cause of insulin resistance and diabetes. Melanocortin-4 receptor (MC4R) signaling at specific sites in the central nervous system has synergistic but non-overlapping functions. However, the mechanism by which MC4R in the arcuate nucleus (ARC) region regulates energy balance and insulin resistance remains unclear.
View Article and Find Full Text PDFCircadian rhythm disruption leads to dysregulation of lipid metabolism, which further drive the occurrence of insulin resistance (IR). Exosomes are natural carrier systems that advantageous for cell communication. In the present study, we aimed to explore whether and how the exosomal microRNAs (miRNAs) in circulation participate in modulating skeletal muscle IR induced by circadian rhythm disruption.
View Article and Find Full Text PDFHereditary spastic paraplegias (HSP) are a group of rare neurodegenerative diseases characterized by progressive spastic paraparesis. UBAP1 was recently found to induce a rare type of HSP (SPG80). We identified a family with eight inherited spastic paraplegic patients carrying a novel heterozygous mutation c.
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