Article
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
American journal of human genetics - 4 May 2017
Hall Emma A, Nahorski Michael S, Murray Lyndsay M, Shaheen Ranad, Perkins Emma, Dissanayake Kosala N, Kristaryanto Yosua, Jones Ross A, Vogt Julie, Rivagorda Manon, Handley Mark T, Mali Girish R, Quidwai Tooba, Soares Dinesh C, Keighren Margaret A, McKie Lisa, Mort Richard L, Gammoh Noor, Garcia-Munoz Amaya, Davey Tracey, Vermeren Matthieu, Walsh Diana, Budd Peter, Aligianis Irene A, Faqeih Eissa, Quigley Alan J, Jackson Ian J, Kulathu Yogesh, Jackson Mandy, Ribchester Richard R, von Kriegsheim Alex, Alkuraya Fowzan S, Woods C Geoffrey, Maher Eamonn R, Mill Pleasantine
Abstract excerpt
During neurotransmission, synaptic vesicles undergo multiple rounds of exo-endocytosis, involving recycling and/or degradation of synaptic proteins. While ubiquitin signaling at synapses is essential for neural function, it has been assumed that synaptic proteostasis requires the ubiquitin-proteasome system (UPS). We demonstrate here that turnover of synaptic membrane proteins via the endolysosomal pathway is...
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