Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
about
Slc35c2 promotes Notch1 fucosylation and is required for optimal Notch signaling in mammalian cellsA new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesisThe human solute carrier gene SLC35B4 encodes a bifunctional nucleotide sugar transporter with specificity for UDP-xylose and UDP-N-acetylglucosamineFatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylationAutosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairmentDeficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type IgNeutrophils: Between host defence, immune modulation, and tissue injuryRegulation of PSGL-1 interactions with L-selectin, P-selectin, and E-selectin: role of human fucosyltransferase-IV and -VIIGolgi nucleotide sugar transport and leukocyte adhesion deficiency IINCU-G1 is a highly glycosylated integral membrane protein of the lysosomeImpairment of skin wound healing in beta-1,4-galactosyltransferase-deficient mice with reduced leukocyte recruitmentDysregulation of TGF-beta1 receptor activation leads to abnormal lung development and emphysema-like phenotype in core fucose-deficient miceDeletion of core fucosylation on alpha3beta1 integrin down-regulates its functionsMetabolic manipulation of glycosylation disorders in humans and animal modelsAlpha1,6-fucosyltransferase-deficient mice exhibit multiple behavioral abnormalities associated with a schizophrenia-like phenotype: importance of the balance between the dopamine and serotonin systems.Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defectMolecular characterization of the human Calpha-formylglycine-generating enzyme.Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation.Role of glycans and glycosyltransferases in the regulation of Notch signalingThe role of nucleotide sugar transporters in development of eukaryotes.Update and perspectives on congenital disorders of glycosylation.C-mannosylation and o-fucosylation of thrombospondin type 1 repeats.Fucose: biosynthesis and biological function in mammals.Substrate recognition by nucleotide sugar transporters: further characterization of substrate recognition regions by analyses of UDP-galactose/CMP-sialic acid transporter chimeras and biochemical analysis of the substrate specificity of parental andNotch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIcNeural-specific α3-fucosylation of N-linked glycans in the Drosophila embryo requires fucosyltransferase A and influences developmental signaling associated with O-glycosylationEffect of ICSI on gene expression and development of mouse preimplantation embryos.Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme.A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation.The congenital disorders of glycosylation: a multifaceted group of syndromes.The CMP-sialic acid transporter is localized in the medial-trans Golgi and possesses two specific endoplasmic reticulum export motifs in its carboxyl-terminal cytoplasmic tail.Negative feedback regulation of Wnt signaling via N-linked fucosylation in zebrafish.Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor zaragozic acid.Sweet solution: sugars to the rescueDeficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.Mutation of GDP-mannose-4,6-dehydratase in colorectal cancer metastasisTransforming growth factor β signaling upregulates the expression of human GDP-fucose transporter by activating transcription factor Sp1.Independent and simultaneous translocation of two substrates by a nucleotide sugar transporter.Dynamic regulation of innate immune responses in Drosophila by Senju-mediated glycosylation.Hematologically important mutations: leukocyte adhesion deficiency (first update).
P2860
Q24299571-4545463A-BA4A-4567-B2FE-2024D077DC23Q24299581-C835298E-7895-4835-83A5-C9F021A9708AQ24303481-15FB1D4F-3FD0-40C1-B5A9-88D403DAA41BQ24337849-C17A6313-EAC8-4F06-AC24-5187D069C84DQ24338530-384BC834-EED3-4E59-8058-BA9781E48838Q24534595-AEE1F699-C0A9-428A-95DF-35712132F562Q28087227-0B68E45B-EAFD-441E-8052-2814467356FFQ28296574-687A9992-929E-48D2-AA99-7855F1190A47Q28343407-ECB2C23C-E9F0-4265-B935-8E89DEDCBC54Q28509778-3A4B313B-4C99-4C69-9229-EFDDDCE81F71Q28513469-9F30B8FE-6FFC-4E2A-AC22-90249A8FF903Q28585434-80185B3B-DD50-4545-8A14-9A2E535C65A3Q28593539-55C27BEE-1B85-4923-B77C-7E516E87B570Q28749888-BDB81968-33CA-4E67-BCE4-8AF5F5404FFCQ30467353-A04B623B-E605-4601-932C-30B08C406AA8Q30577686-B1CA7C93-6BCC-491C-92E4-330B49EC5BD9Q33210995-1A4F8036-51D0-4808-9449-D287C8E27E25Q33741917-1383B765-6579-4FC2-A8E9-F538A2EB737CQ34030111-BBB590BA-D101-425B-A158-E962D2B94550Q34049992-06372D7B-A5DF-4C7F-B4C6-58BE7781B622Q34110629-75AE7D87-C24A-42E3-A062-04881936630CQ34136787-8E6FFB3A-8AD3-4FE0-B19C-682A54421E42Q34185452-BBFA56B3-32BF-4233-80D7-C872AE84A448Q34189085-B8421835-3A10-45CD-9ACA-C52D1896EBD0Q34234413-AD896F58-9F99-46AE-9722-60DFEC84AACAQ34308024-2FC3E7D7-B767-4CF0-8982-0E94FD5FA5D1Q34341048-97DC1967-1D2C-4376-98DA-3C465EA2157EQ34393884-4B813576-1860-4F56-ADE3-013A7B5B83CAQ34475345-AE68CEF2-1D79-419D-A247-F57A27650BDAQ34504298-D782A3C5-79A1-4D7C-B0D1-15DEC370ED27Q34559314-468FC5DB-52F1-499E-AF93-7BA46214DC61Q34651389-DA350B12-4FDA-463C-8942-D2E5D2052549Q34675932-7634B200-DC47-45DD-ADD6-E72B23BCF8BCQ34789324-0D6968AE-A623-453B-985E-FF5B492763A9Q34789899-8A96EAEA-7164-40DB-BBB0-2C465526318AQ34906724-4E9537A4-E330-489A-BD3F-B45E6F3B5DC7Q34999194-0E108001-4346-41EE-AA55-7F1F83A650D7Q35107357-4BE643E1-55F1-4743-94C2-BBB49788572FQ35590117-D49129C3-E431-42F2-8688-366EB3505AD2Q35963681-15FAE9E8-4E30-4A0D-A69D-6196C73DFF2D
P2860
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Complementation cloning identi ...... fucose transporter deficiency.
@ast
Complementation cloning identi ...... fucose transporter deficiency.
@en
type
label
Complementation cloning identi ...... fucose transporter deficiency.
@ast
Complementation cloning identi ...... fucose transporter deficiency.
@en
prefLabel
Complementation cloning identi ...... fucose transporter deficiency.
@ast
Complementation cloning identi ...... fucose transporter deficiency.
@en
P2093
P356
P1433
P1476
Complementation cloning identi ...... fucose transporter deficiency.
@en
P2093
P356
10.1038/88299
P407
P577
2001-05-01T00:00:00Z