Article
HERC 1 Ubiquitin Ligase Mutation Affects Neocortical, CA3 Hippocampal and Spinal Cord Projection Neurons: An Ultrastructural Study
Author/s | Ruiz Laza, Rocío
Pérez Villegas, Eva María Bachiller, Sara Rosa, José Luis Armengol, Jose Ángel |
Department | Universidad de Sevilla. Departamento de Bioquímica y Biología Molecular |
Publication Date | 2016 |
Deposit Date | 2020-05-06 |
Published in |
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Abstract | 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 ... 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 being targeted by the mutation, and their degeneration elicits an ataxic syndrome in adult mutant mice. |
Funding agencies | Ministerio de Economía y Competitividad (MINECO). España Universidad de Sevilla Dirección General de Investigación Científica y Técnica (DGICYT). España Junta de Andalucía Ministerio de Ciencia e Innovación (MICIN). España |
Project ID. | JCI-2011-08888
VPPI-US BFU2011-27207 CTS-2257 BFU2011-22498 |
Citation | Ruiz Laza, R., Pérez Villegas, E.M., Bachiller, S., Rosa, J.L. y Armengol, J.Á. (2016). HERC 1 Ubiquitin Ligase Mutation Affects Neocortical, CA3 Hippocampal and Spinal Cord Projection Neurons: An Ultrastructural Study. Frontiers in Neuroanatomy, 10, 42. |
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