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
Therapeutic and Diagnostic Potential of Folic Acid Receptors and Glycosylphosphatidylinositol (GPI) Transamidase in Prostate Cancer
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DOI: 10.3390/cancers16112008
Abstract: Simple Summary Folate receptors can serve to increase folate uptake in cancer cells through significant overexpression, which is ultimately critical for cell proliferation and tumor growth. Therefore, the characterization of folate receptor expression in cancer… read more here.
Keywords: cancer; folate; prostate cancer; pca ... See more keywords