Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie-Reference-Cited by-同舟云学术

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

Published:2000-01-15 Issue:2 Volume:105 Page:233-239
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Imbach Timo,Schenk Barbara,Schollen Els,Burda Patricie,Stutz Andreas,Grünewald Stephanie,Bailie Nicola M.,King Mary D.,Jaeken Jaak,Matthijs Gert,Berger Eric G.,Aebi Markus,Hennet Thierry

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Reference34 articles.

1. The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

2. Biological roles of oligosaccharides: all of the theories are correct

3. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

4. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

Cited by 154 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models;Cell Reports;2024-03

2. Protein O-mannosylation: one sugar, several pathways, many functions.;Glycobiology;2023-08-11

3. A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress;PLOS Genetics;2022-09-27

4. Whole-genome CRISPR screening identifies N-glycosylation as a genetic and therapeutic vulnerability in CALR-mutant MPNs;Blood;2022-09-15

5. Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review;Frontiers in Genetics;2022-07-13