Role of poFUT1 and O-fucosylation in placental angiogenesis
Sign Up to like & getrecommendations! Published in 2023 at "Biology of Reproduction"
DOI: 10.1093/biolre/ioad011
Abstract: Abstract Trophoblast cells are critical to placental angiogenesis in the first trimester of pregnancy. Dysfunction of trophoblast leads to defective vascular remodeling and impaired angiogenesis, which is believed as the major cause of placental insufficiency… read more here.
Keywords: pofut1; fucosylation; angiogenesis; trophoblast cells ... See more keywords
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features
Sign Up to like & getrecommendations! Published in 2018 at "Glycobiology"
DOI: 10.1093/glycob/cwy014
Abstract: Protein O-fucosyltransferase-1 (POFUT1) adds O-fucose monosaccharides to epidermal growth factor-like (EGF) repeats found on approximately 100 mammalian proteins, including Notch receptors. Haploinsufficiency of POFUT1 has been linked to adult-onset Dowling Degos Disease (DDD) with hyperpigmentation… read more here.
Keywords: developmental delay; likely causes; pofut1; global developmental ... See more keywords