(Q24310193)

English

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij

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Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij (English)

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congenital disorder

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Dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

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GOA release 2020-03-11

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congenital disorder

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congenital disorder of glycosylation

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Hudson H. Freeze

object named as

Hudson H Freeze

8

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author name string

Xiaohua Wu

1

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Jeffrey S Rush

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Denise Karaoglu

3

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Donna Krasnewich

4

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Mark S Lubinsky

5

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Charles J Waechter

6

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Reid Gilmore

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language of work or name

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publication date

August 2003

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22

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2

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144-50

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A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation

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Neuronal apoptosis induced by endoplasmic reticulum stress.

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Conserved sequences in enzymes of the UDP-GlcNAc/MurNAc family are essential in hamster UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase

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Oligomerization of hamster UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase, an enzyme with multiple transmembrane spans

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Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae

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The pathology of N-glycosylation--stay the middle, avoid the risks

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ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg

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Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

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The unfolded protein response and Alzheimer's disease

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Oligosaccharyltransferase activity is associated with a protein complex composed of ribophorins I and II and a 48 kd protein

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Large-scale isolation of dolichol-linked oligosaccharides with homogeneous oligosaccharide structures: determination of steady-state dolichol-linked oligosaccharide compositions

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A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality

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Programmed cell death: implications for neuropsychiatric disorders

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Caspase-12 mediates endoplasmic-reticulum-specific apoptosis and cytotoxicity by amyloid-beta

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Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts

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A procedure for eliminating interferences in the lowry method of protein determination

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based on heuristic

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Genomic organization and expression of hamster UDP-N-acetylglucosamine:dolichyl phosphate N-acetylglucosaminyl phosphoryl transferase.

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https://api.crossref.org/works/10.1002%2FHUMU.10239

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based on heuristic

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Endoplasmic reticulum stress-induced cysteine protease activation in cortical neurons: effect of an Alzheimer's disease-linked presenilin-1 knock-in mutation

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based on heuristic

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Evidence for the enzymatic transfer of N-acetylglucosamine from UDP--N-acetylglucosamine into dolichol derivative and glycoproteins by calf brain membranes

1 reference

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7 January 2021

based on heuristic

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Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10239

7 January 2021

based on heuristic

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Antiribophorin antibodies inhibit the targeting to the ER membrane of ribosomes containing nascent secretory polypeptides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10239

7 January 2021

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Update and perspectives on congenital disorders of glycosylation

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https://api.crossref.org/works/10.1002%2FHUMU.10239

7 January 2021

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Identifiers

10.1002/HUMU.10239

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