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Title: | The HERC proteins and the nervous system |
Author: | Pérez Villegas, Eva María Ruiz, Rocío Bachiller, Sara Ventura Pujol, Francesc Armengol, José Ángel Rosa López, José Luis |
Keywords: | Proteïnes supressores de tumors Sistema nerviós Degeneració Malalties neurodegeneratives Tumor suppressor protein Nervous system Degeneration Neurodegenerative Diseases |
Issue Date: | 27-Nov-2021 |
Publisher: | Elsevier |
Abstract: | The HERC protein family is one of three subfamilies of Homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases. Six HERC genes have been described in humans, two of which encode Large HERC proteins -HERC1 and HERC2- with molecular weights above 520 kDa that are constitutively expressed in the brain. There is a large body of evidence that mutations in these Large HERC genes produce clinical syndromes in which key neurodevelopmental events are altered, resulting in intellectual disability and other neurological disorders like epileptic seizures, dementia and/or signs of autism. In line with these consequences in humans, two mice carrying mutations in the Large HERC genes have been studied quite intensely: the tambaleante mutant for Herc1 and the Herc2+/530 mutant for Herc2. In both these mutant mice there are clear signs that autophagy is dysregulated, eliciting cerebellar Purkinje cell death and impairing motor control. The tambaleante mouse was the first of these mice to appear and is the best studied, in which the Herc1 mutation elicits: (i) delayed neural transmission in the peripheral nervous system; (ii) impaired learning, memory and motor control; and (iii) altered presynaptic membrane dynamics. In this review, we discuss the information currently available on HERC proteins in the nervous system and their biological activity, the dysregulation of which could explain certain neurodevelopmental syndromes and/or neurodegenerative diseases. |
Note: | Reproducció del document publicat a: https://doi.org/10.1016/j.semcdb.2021.11.017 |
It is part of: | Seminars in Cell & Developmental Biology, 2021, vol. S1084-9521(21), p. 00293-7 |
URI: | http://hdl.handle.net/2445/183229 |
Related resource: | https://doi.org/10.1016/j.semcdb.2021.11.017 |
ISSN: | 1084-9521 |
Appears in Collections: | Articles publicats en revistes (Ciències Fisiològiques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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