Article ; Online: A
International journal of molecular sciences
2022 Volume 23, Issue 19
Abstract: Congenital disorders of glycosylation (CDG) are a heterogenous group of primarily autosomal recessive mendelian diseases caused by disruptions in the synthesis of lipid-linked oligosaccharides and their transfer to proteins. CDGs usually affect multiple ... ...
Abstract | Congenital disorders of glycosylation (CDG) are a heterogenous group of primarily autosomal recessive mendelian diseases caused by disruptions in the synthesis of lipid-linked oligosaccharides and their transfer to proteins. CDGs usually affect multiple organ systems and vary in presentation, even within families. There is currently no cure, and treatment is aimed at ameliorating symptoms and improving quality of life. Here, we describe a chemically induced mouse mutant, |
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MeSH term(s) | Acetylglucosamine ; Animals ; Aspartic Acid/genetics ; Congenital Disorders of Glycosylation/genetics ; Glycine/genetics ; Humans ; Mice ; Muscle Weakness ; Mutation ; Mutation, Missense ; Phosphates ; Quality of Life ; Retinal Diseases ; Uridine Diphosphate |
Chemical Substances | Phosphates ; Aspartic Acid (30KYC7MIAI) ; Uridine Diphosphate (58-98-0) ; Glycine (TE7660XO1C) ; Acetylglucosamine (V956696549) |
Language | English |
Publishing date | 2022-10-09 |
Publishing country | Switzerland |
Document type | Journal Article |
ZDB-ID | 2019364-6 |
ISSN | 1422-0067 ; 1422-0067 ; 1661-6596 |
ISSN (online) | 1422-0067 |
ISSN | 1422-0067 ; 1661-6596 |
DOI | 10.3390/ijms231912005 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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