Publications by authors named "Anne Olivier-Bandini"
The reversible adenine phosphoribosyltransferase enzyme (APRT) is essential for purine homeostasis in prokaryotes and eukaryotes. In humans, APRT (hAPRT) is the only enzyme known to produce AMP in cells from dietary adenine. APRT can also process adenine analogs, which are involved in plant development or neuronal homeostasis.
View Article and Find Full Text PDFPhosphoribosyltransferases catalyze the displacement of a PRPP α-1'-pyrophosphate to a nitrogen-containing nucleobase. How they control the balance of substrates/products binding and activities is poorly understood. Here, we investigated the human adenine phosphoribosyltransferase (hAPRT) that produces AMP in the purine salvage pathway.
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- - RdCVF is a protective protein secreted by rod photoreceptors that helps prevent cone cell degeneration, which is crucial in retinitis pigmentosa (RP) leading to blindness.
- - The study found that RdCVF interacts with Basigin-1, which in turn facilitates glucose entry into cone cells through the GLUT1 transporter, enhancing their survival through aerobic glycolysis.
- - A specific mutation in RdCVF prevents it from binding to Basigin-1, disrupting glucose uptake and contributing to cone cell death in RP, highlighting a novel way to protect nerve cells by boosting glucose metabolism.
We describe a family of seven boys affected by Lesch-Nyhan disease with various phenotypes. Further investigations revealed a mutation c.203T>C in the gene encoding HGprt of all members, with substitution of leucine to proline at residue 68 (p.
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