HGprt deficiency disrupts dopaminergic circuit development in a genetic mouse model of Lesch–Nyhan disease

In Lesch–Nyhan disease (LND), deficiency of the purine salvage enzyme hypoxanthine guanine phosphoribosyl transferase (HGprt) leads to a characteristic neurobehavioral phenotype dominated by dystonia, cognitive deficits and incapacitating self-injurious behavior. It has been known for decades that L...

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Detalles Bibliográficos
Autores principales: Witteveen, J. S., Loopstok, S. R., Ballesteros, L. Luque, Boonstra, A., van Bakel, N. H. M., van Boekel, W. H. P., Martens, G. J. M., Visser, J. E., Kolk, S. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167210/
https://www.ncbi.nlm.nih.gov/pubmed/35660973
http://dx.doi.org/10.1007/s00018-022-04326-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167210/
https://www.ncbi.nlm.nih.gov/pubmed/35660973
http://dx.doi.org/10.1007/s00018-022-04326-x

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