Identification of a homozygous GFPT2 variant in a family with asthenozoospermia.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.02.060
Abstract: PURPOSE Asthenozoospermia (ASZ) is a condition characterized by reduced sperm motility in semen affecting approximately 19% of infertile men. Major risk factors, particularly gene mutations, still remain unknown. The main aim of the present study… read more here.
Keywords: sperm motility; identification homozygous; gfpt2 variant; asthenozoospermia ... See more keywords
GFPT2/GFAT2 and AMDHD2 act in tandem to control the hexosamine pathway
Sign Up to like & getrecommendations! Published in 2022 at "eLife"
DOI: 10.7554/elife.69223
Abstract: The hexosamine biosynthetic pathway (HBP) produces the essential metabolite UDP-GlcNAc and plays a key role in metabolism, health, and aging. The HBP is controlled by its rate-limiting enzyme glutamine fructose-6-phosphate amidotransferase (GFPT/GFAT) that is directly… read more here.
Keywords: udp glcnac; gfpt2; amdhd2; hbp ... See more keywords