Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria
about
Gaa1p and gpi8p are components of a glycosylphosphatidylinositol (GPI) transamidase that mediates attachment of GPI to proteinsInitial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridgePIG-B, a membrane protein of the endoplasmic reticulum with a large lumenal domain, is involved in transferring the third mannose of the GPI anchorMammalian antioxidant protein complements alkylhydroperoxide reductase (ahpC) mutation in Escherichia coliPIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulumThe initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymesThe first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A geneParoxysmal nocturnal hemoglobinuria from bench to bedsideDiagnosis and management of paroxysmal nocturnal hemoglobinuriaRecent advances in the pathogenesis and treatment of paroxysmal nocturnal hemoglobinuriaBiosynthesis and deficiencies of glycosylphosphatidylinositolHuman genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)Glycosyl phosphatidylinositol anchor biosynthesis is essential for maintaining epithelial integrity during Caenorhabditis elegans embryogenesisStructural Basis for Eculizumab-Mediated Inhibition of the Complement Terminal PathwayGpi1, a Saccharomyces cerevisiae protein that participates in the first step in glycosylphosphatidylinositol anchor synthesis.Deletion of GPI7, a yeast gene required for addition of a side chain to the glycosylphosphatidylinositol (GPI) core structure, affects GPI protein transport, remodeling, and cell wall integrity.Yeast Gaa1p is required for attachment of a completed GPI anchor onto proteins.Cloning of a human UDP-N-acetyl-alpha-D-Galactosamine:polypeptide N-acetylgalactosaminyltransferase that complements other GalNAc-transferases in complete O-glycosylation of the MUC1 tandem repeatPIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesisTranscriptome and biochemical analysis reveals that suppression of GPI-anchor synthesis leads to autophagy and possible necroptosis in Aspergillus fumigatusGPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesisThe Schizosaccharomyces pombe GPI8 gene complements a Saccharomyces cerevisiae GPI8 anchoring mutant.A case of paroxysmal nocturnal hemoglobinuria presenting with intra-abdominal bleeding due to splenic rupture, developing renal infarct.Cerebral Stroke in a Teenage Girl with Paroxysmal Nocturnal Hemoglobinuria.Leukemia arising out of paroxysmal nocturnal hemoglobinuria.A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC modelClonal evolution of aplastic anaemia to myelodysplasia/acute myeloid leukaemia and paroxysmal nocturnal haemoglobinuria.Phenotypic and functional characterization of a mouse model of targeted Pig-a deletion in hematopoietic cellsBiosynthesis of glycosylphosphatidylinositols in mammals and unicellular microbes.Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.Paroxysmal nocturnal hemoglobinuria with copy number-neutral 6pLOH in GPI (+) but not in GPI (-) granulocytesAnalysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Implications of recent insights into the pathophysiology of paroxysmal nocturnal haemoglobinuria.Paroxysmal nocturnal haemoglobinuria: nature's gene therapy?Rapid growth of a hepatocellular carcinoma and the driving mutations revealed by cell-population genetic analysis of whole-genome dataThe modern management of severe aplastic anaemia.Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using fluorescent aerolysin
P2860
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P2860
Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria
description
1993 nî lūn-bûn
@nan
1993 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Deficiency of the GPI anchor c ...... ysmal nocturnal hemoglobinuria
@ast
Deficiency of the GPI anchor c ...... ysmal nocturnal hemoglobinuria
@en
Deficiency of the GPI anchor c ...... ysmal nocturnal hemoglobinuria
@nl
type
label
Deficiency of the GPI anchor c ...... ysmal nocturnal hemoglobinuria
@ast
Deficiency of the GPI anchor c ...... ysmal nocturnal hemoglobinuria
@en
Deficiency of the GPI anchor c ...... ysmal nocturnal hemoglobinuria
@nl
prefLabel
Deficiency of the GPI anchor c ...... ysmal nocturnal hemoglobinuria
@ast
Deficiency of the GPI anchor c ...... ysmal nocturnal hemoglobinuria
@en
Deficiency of the GPI anchor c ...... ysmal nocturnal hemoglobinuria
@nl
P2093
P3181
P1433
P1476
Deficiency of the GPI anchor c ...... ysmal nocturnal hemoglobinuria
@en
P2093
M Takahashi
T Kinoshita
P304
P3181
P356
10.1016/0092-8674(93)90250-T
P407
P577
1993-05-21T00:00:00Z