GALT deficiency causes UDP-hexose deficit in human galactosemic cells
Author:
Publisher
Oxford University Press (OUP)
Subject
Biochemistry
Link
http://academic.oup.com/glycob/article-pdf/13/4/285/1512053/cwg033.pdf
Cited by 93 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. Galactose-1-phosphate inhibits cytochrome c oxidase and causes mitochondrial dysfunction in classic galactosemia;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-10
2. Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT‐null D. Melanogaster model of classic galactosemia;Journal of Inherited Metabolic Disease;2024-07-03
3. Galactokinase 1 is the source of elevated galactose‐1‐phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia;JIMD Reports;2024-06-23
4. Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia;Molecular Therapy - Methods & Clinical Development;2024-03
5. Natural history of three late-diagnosed classic Galactosemia patients;Molecular Genetics and Metabolism Reports;2024-03
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