Article
The HERC1 ubiquitin ligase regulates presynaptic membrane dynamics of central synapses.
Scientific reports - 21 Jul 2020
Montes-Fernández Mª Angeles, Pérez-Villegas Eva Mª, Garcia-Gonzalo Francesc R, Pedrazza Leonardo, Rosa Jose Luis, de Toledo Guillermo Alvarez, Armengol José A
Abstract excerpt
HERC1 is a ubiquitin ligase protein, which, when mutated, induces several malformations and intellectual disability in humans. The animal model of HERC1 mutation is the mouse tambaleante characterized by: (1) overproduction of the protein; (2) cerebellar Purkinje cells death by autophagy; (3) dysregulation of autophagy in spinal cord motor neurons, and CA3 and neocortical pyramidal neurons; (4) impairment of...
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