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

• Main Authors: Rocío eRuiz (Author), Eva María ePérez-Villegas (Author), Sara eBachiller (Author), José Luis eRosa (Author), José A Armengol (Author)
• Format: Book
• Published: Frontiers Media S.A., 2016-04-01T00:00:00Z.
• Subjects: article
• Online Access: 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...