2024年12月25日 · GFPT1 (Glutamine--Fructose-6-Phosphate Transaminase 1) is a Protein Coding gene. Diseases associated with GFPT1 include Myasthenic Syndrome, Congenital, 12 …

GFPT1 is the key enzyme in the hexosamine biosynthesis pathway. Mutations in GFPT1 cause defective glycosylation in the proteins of the neuromuscular junction. Downregulation of the …

2018年9月15日 · Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein …

2025年2月9日 · Clinical resource with information about GFPT1, Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 4C, and available tests. There are links to …

GFPT1 is a prognostic marker in Kidney renal clear cell carcinoma, Rectum adenocarcinoma

2024年12月25日 · GFPT1 upregulation with glutamine, in turn, further increases the expression of COL2A1 and decreases the expression of MMP13. Conclusions: Our findings demonstrate …

2021年7月9日 · The GFPT1 gene encodes an isoform of glutamine:fructose-6-phosphate amidotransferase (GFAT), which catalyzes the transfer of an amino group from glutamine onto …

Glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) is the rate-limiting enzyme within the hexosamine biosynthetic pathway (HBP), a metabolic pathway that produces the precursors …

2014年1月1日 · Two isoforms of GFPT have been discovered, namely, GFPT1 and GFPT2 (Oki et al. 1999). In this chapter, I describe GFPT1 or GFPT2 and specify which one is used in …

2013年2月12日 · OBJECTIVE: To identify patients with GFPT1-related limb-girdle CMS and analyze phenotypic consequences of the identified mutations. BACKGROUND: GFPT1 is the …