Mutations in STT3A and STT3B cause two congenital disorders of glycosylation-Reference-Cited by-同舟云学术

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Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

Published:2013-07-10 Issue:22 Volume:22 Page:4638-4645
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Shrimal S.,Ng B. G.,Losfeld M.-E.,Gilmore R.,Freeze H. H.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/22/22/4638/1565301/ddt312.pdf

Reference23 articles.

1. Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

2. Neurology of inherited glycosylation disorders

3. Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG

4. Glycosylation disorders of membrane trafficking

5. Diseases of glycosylation beyond classical congenital disorders of glycosylation

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2. SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient;Molecular Genetics and Metabolism;2024-07

3. Positive selection CRISPR screens reveal a druggable pocket in an oligosaccharyltransferase required for inflammatory signaling to NF-κB;Cell;2024-04

4. Brucella-driven host N-glycome remodeling controls infection;Cell Host & Microbe;2024-04

5. N-glycosylation as a eukaryotic protective mechanism against protein aggregation;Science Advances;2024-02-02

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