A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts

• Main Authors: Paula Escudero-Ferruz (Author), Neus Ontiveros (Author), Claudia Cano-Estrada (Author), Diane J. Sutcliffe (Author), H. A. Jinnah (Author), Rosa J. Torres (Author), José M. López (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Lesch-Nyhan disease (LND) is a severe neurological disorder caused by the genetic deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGprt), an enzyme involved in the salvage synthesis of purines. To compensate this deficiency, there is an acceleration of the de novo p...