Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency
Author:
Affiliation:
1. Department of Genetics The University of Alabama at Birmingham Birmingham Alabama USA
2. Complex Carbohydrate Research Center University of Georgia Athens Georgia USA
3. Greenwood Genetic Center Greenwood South Carolina USA
Funder
Greenwood Genetic Center Foundation
Publisher
Wiley
Subject
Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12353
Reference25 articles.
1. ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis
2. Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation
3. Biology of GM3 Ganglioside
4. Homeostatic and pathogenic roles of the GM3 ganglioside
5. Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts
Cited by 2 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. Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector;Stem Cell Research;2024-06
2. Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants;Human Molecular Genetics;2023-09-07
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