A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes
Sign Up to like & getrecommendations! Published in 2020 at "Human Genetics"
DOI: 10.1007/s00439-020-02192-w
Abstract: Vascular anomalies (VAs), comprising wide subtypes of tumors and malformations, are often caused by variants in multiple tyrosine kinase (TK) receptor signaling pathways including TIE2, PIK3CA and GNAQ/11. Yet, a portion of individuals with clinical… read more here.
Keywords: protein; gpi transamidase; vascular anomalies; variant gpaa1 ... See more keywords
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.08.014
Abstract: Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that are increasingly recognized as a result of advances in whole-exome sequencing (WES) and whole-genome sequencing (WGS). IGDs cause a series of overlapping phenotypes… read more here.
Keywords: akinesia; fetal akinesia; pigs encoding; encoding gpi ... See more keywords
The caspase-like Gpi8 subunit of Candida albicans GPI transamidase is a metal-dependent endopeptidase.
Sign Up to like & getrecommendations! Published in 2020 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2020.02.008
Abstract: GPI anchored proteins (GPI-APs) act at the frontiers of cells, decoding environmental cues and determining host-pathogen interactions in several lower eukaryotes. They are also essential for viability in lower eukaryotes. The GPI biosynthetic pathway begins… read more here.
Keywords: caspase like; like gpi8; transamidase; gpi transamidase ... See more keywords