HERC 1 ubiquitin ligase mutation affects neocortical, CA3 hippocampal and spinal cord projection neurons. An ultrastructural study

• Główni autorzy: Rocío eRuiz (Autor), Eva María ePérez-Villegas (Autor), Sara eBachiller (Autor), José Luis eRosa (Autor), José A Armengol (Autor)
• Format: Książka
• Wydane: Frontiers Media S.A., 2016-04-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

The spontaneous mutation tambaleante is caused by the Gly483Glu substitution in the highly conserved N terminal RCC1-like domain of the HERC1 protein, which leads to the increase of mutated protein levels responsible for cerebellar Purkinje cell death by autophagy. Until now, Purkinje cells have bee...