Congenital disorders of glycosylation and intellec- tual disability. Dev Disabil Res Rev. 2013;17(3):211–25. 90. Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency ...
activity through recruiting SHP1 and SHP2 phosphatases.58The Siglec-sialoglycan axis plays a strong role in regulating both the innate and adaptive immune responses and has been found to be strongly associated with tumor evasion which involves altered glycosylation.59,60Integrins are a large family ...
activity through recruiting SHP1 and SHP2 phosphatases.58The Siglec-sialoglycan axis plays a strong role in regulating both the innate and adaptive immune responses and has been found to be strongly associated with tumor evasion which involves altered glycosylation.59,60Integrins are a large family ...
such as congenital disorders of glycosylation or immune disease.Advanced mass spectrometry has been widely applied for uncovering the role of N-glycosylation in clinical practices and scientific researches.This reviews summarized synthetic processes,biological roles and mass-spectrometry-based analytical ...
Expression of both OST complexes in human cells is necessary to achieve full glycosylation of the N-glycoproteome and is essential for normal human health and development as exem- plified by the recent discovery of patients with novel forms of congenital disorders of glycosylation-I (CDG-1) ...
CONGENITAL disordersSYMPTOMSGLYCOSYLATIONISOELECTRIC focusingTRANSFERRINFRAGILE X syndromeThe congenital disorder of glycosylation type IIs (ATP6AP1-CDG; OMIM# 300972) is a rare X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobul...
LDL receptor-related protein 5 (Lrp5), sclerostin (Sost), and human immunodeficiency virus type 1 enhancer-binding protein 3 (Hivep3), have been found to control osteoblast function in the adult human and/or mouse during postnatal skeletal remodeling (6., 7., 8., 9.10). Hivep3, also ...
Development of a panel of well-characterized human immunodeficiency virus type 1 isolates from newly diagnosed patients including acute and recent infections. The aim of this study was the development of a panel constituted by well-defined HIV-1 strains of different genetic forms, with a particular...
Patients display an immunodeficiency phenotype associated with hypogammaglobulinemia, hepatopathy and a spectrum of neurocognitive abnormalities. Ac45 in human brain is present as the common, processed B40-kDa form, while liver shows a 62-kDa intact protein, and B-cells a 50-kDa isoform. Our ...
Leukocyte adhesion deficiency II (LAD II), also known as congenital disorder of glycosylation IIc (CDG-IIc), is a human disease in which a defective GDP-fucose transporter (SLC35C1) causes developmental defects and an immunodeficiency that is based on the lack of fucosylated selectin ligands. Si...