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Fabry disease (FD) is a hereditary lysosomal storage disorder caused by mutations in GLA gene resulting in reduction or lack of α-galactosidase A activity. In humans, enzymatic deficiency leads to accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in lysosomes. Current therapie...
ORGANISM(S): Danio rerio (Zebrafish) (Brachydanio rerio) 
2023-10-24 | PXD035409 | Pride
Purpose: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a rare mitochondrial encephalomyopathy subtype, is caused by mutations of thymidine phosphorylase (TYMP). As a metabolic enzyme localized in the cytoplasm, the biological processes disturbed by TYMP functional defect are suppose...
ORGANISM(S): Homo sapiens 
2025-03-01 | GSE222921 | GEO
Distinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction
The cornea is the transparent tissue covering the anterior part of the eye. Its main roles are to convey the light toward the retina, and to act as a protective barrier against infection or injury for the eye. The transparency of the cornea is a crucial component of its functionality and is the resu...
ORGANISM(S): Mus musculus (Mouse) 
2024-07-25 | PXD052337 | Pride
The metabolic sensor LKB1 regulates ILC3 homeostasis and mitochondrial function
Previous work has reported that the peptide derived from LfcinB, R-1-R exhibited anti-Candida activity, which is enhanced when combined with an extract from the Bidens pilosa plant. However, the mechanism of action has not been studied until now. In the current study, an approach to the mechanism of...
ORGANISM(S): Candida albicans (Yeast) 
2024-10-17 | PXD053558 | Pride
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