MAN1B1 Deficiency: An Unexpected CDG-II-Reference-Cited by-同舟云学术

MAN1B1 Deficiency: An Unexpected CDG-II

Published:2013-12-12 Issue:12 Volume:9 Page:e1003989
ISSN:1553-7404
Container-title:PLoS Genetics
language:en
Short-container-title:PLoS Genet

Author:

Rymen Daisy,Peanne Romain,Millón María B.,Race Valérie,Sturiale Luisa,Garozzo Domenico,Mills Philippa,Clayton Peter,Asteggiano Carla G.,Quelhas Dulce,Cansu Ali,Martins Esmeralda,Nassogne Marie-Cécile,Gonçalves-Rocha Miguel,Topaloglu Haluk,Jaeken Jaak,Foulquier François,Matthijs Gert

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics(clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference24 articles.

1. Congenital disorders of glycosylation: a rapidly expanding disease family;J Jaeken;Annual review of genomics and human genetics,2007

2. Congenital disorders of glycosylation: sweet news;M Theodore;Current opinion in pediatrics,2011

3. Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG;G Matthijs;Glycoconjugate journal,2013

4. Protein folding in the ER;FJ Stevens;Seminars in cell & developmental biology,1999

5. Degradation of misfolded endoplasmic reticulum glycoproteins in Saccharomyces cerevisiae is determined by a specific oligosaccharide structure;CA Jakob;The Journal of cell biology,1998

Cited by 64 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. Serum proteomic analysis in esophagectomy patients with postoperative delirium: A case-control study;Heart & Lung;2024-01

2. Genetic disruption of mammalian endoplasmic reticulum‐associated protein degradation: Human phenotypes and animal and cellular disease models;Traffic;2023-05-15

3. Portrait of autosomal recessive diseases in the French‐Canadian founder population of Saguenay‐Lac‐Saint‐Jean;American Journal of Medical Genetics Part A;2023-02-14

4. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives;Journal of Rare Diseases;2022-12-07

5. Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome;International Journal of Molecular Sciences;2022-09-13