HPRT1 Deficiency Induces Alteration of Mitochondrial Energy Metabolism in the Brain

Alterations in function of hypoxanthine guanine phosphoribosyl transferase (HPRT), one of the major enzymes involved in purine nucleotide exchange, lead to overproduction of uric acid and produce various symptoms of Lesch-Nyhan syndrome (LNS). One of the hallmarks of LNS is maximal expression of HPR...

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Detalles Bibliográficos
Autores principales: Vinokurov, Andrey Y., Soldatov, Vladislav O., Seregina, Evgenia S., Dolgikh, Angelina I., Tagunov, Pavel A., Dunaev, Andrey V., Skorkina, Marina Y., Deykin, Alexey V., Abramov, Andrey Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10122629/
https://www.ncbi.nlm.nih.gov/pubmed/36802322
http://dx.doi.org/10.1007/s12035-023-03266-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10122629/
https://www.ncbi.nlm.nih.gov/pubmed/36802322
http://dx.doi.org/10.1007/s12035-023-03266-2

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