为探究 GFPT1-CMS 表型及遗传谱认知有限的问题，研究人员对 24 例中国患者开展临床、病理及基因分析。发现 c.331C>T 为热点变异，可能存在奠基者效应，纯合无效变异表型更重，更新了对该病的认知。 在神秘的人体神经肌肉世界里，神经肌肉接头（NMJ）如同精密 ...

研究人员以 c-Myc 驱动的小鼠 HCC 模型为对象，研究代谢异常及治疗意义。结果发现己糖胺生物合成途径（HBP）激活，敲除 GFPT1、NANS 可抑制肿瘤生长。该成果为 HCC 治疗提供新思路。 在生命的长河中，癌症始终是威胁人类健康的重大难题，其中肝细胞癌 ...

By combining transcriptomic, proteomic, and metabolomic analyses, we here show that transition to latent HIV‐1 infection downregulates glycolysis, while viral reactivation by conventional stimuli ...

Background: Metabolic reprogramming is a hallmark of cancer, including alterations in the hexosamine biosynthesis pathway (HBP). Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the key ...

LncRNAs are analogous to a regulatory key during glycolysis. In this paper, we review the mechanisms of LncRNA in the tumor glycolytic pathway and their potential therapeutic strategies, including ...

Endothelial cells (ECs) use glycolysis to produce energy. In preclinical models of peripheral arterial disease, further activation of EC glycolysis was ineffective or deleterious in promoting ...

【引用格式】李茂华,周楷.GFPT1基因新突变致先天性肌无力综合征1例及家系报告[J]. 中国神经精神疾病杂志，2023，49（3）：168-172. 【Cite this article】LI M H,ZHOU K.Novel compound heterozygous GFPT1 mutations in a family with congenital myasthenic syndrome ...

Glycolysis is a term used to describe the metabolic pathway involving the degradation of glucose into pyruvate and energy used to form adenosine triphosphate (ATP) and reduced nicotinamide adenine ...