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ARMENGOL , Jose Ángel

Last name: ARMENGOL

First name: Jose Ángel

May 6, 2020 (v1)

Publication

Metadata-only

HERC 1 Ubiquitin Ligase Mutation Affects Neocortical, CA3 Hippocampal and Spinal Cord Projection Neurons: An Ultrastructural Study

Ruiz Laza, Rocío Pérez Villegas, Eva María Bachiller, Sara

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 been the only central nervous neurons reported as...

Uploaded on: December 4, 2022