PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

Hall, EA, Nahorski, MS, Murray, LM et al. (32 more authors) (2017) PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. The American Journal of Human Genetics, 100 (5). pp. 706-724. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Hall, EA
  • Nahorski, MS
  • Murray, LM
  • Shaheen, R
  • Perkins, E
  • Dissanayake, KN
  • Kristaryanto, Y
  • Jones, RA
  • Vogt, J
  • Rivagorda, M
  • Handley, MT
  • Mali, GR
  • Quidwai, T
  • Soares, DC
  • Keighren, MA
  • McKie, L
  • Mort, RL
  • Gammoh, N
  • Garcia-Munoz, A
  • Davey, T
  • Vermeren, M
  • Walsh, D
  • Budd, P
  • Aligianis, IA
  • Faqeih, E
  • Quigley, AJ
  • Jackson, IJ
  • Kulathu, Y
  • Jackson, M
  • Ribchester, RR
  • von Kriegsheim, A
  • Alkuraya, FS
  • Woods, CG
  • Maher, ER
  • Mill, P
Copyright, Publisher and Additional Information: (c) 2017 The Author(s). This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Keywords: ubiquitin; endolysosomal trafficking; autophagy; synaptic vesicle recycling; synapse; microcephaly; cerebellum; Phospholipase A2-activating protein; Ufd3; seizures
Dates:
  • Published: 4 May 2017
  • Accepted: 17 March 2017
  • Published (online): 13 April 2017
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 08 Dec 2017 09:56
Last Modified: 08 Dec 2017 09:56
Status: Published
Publisher: Elsevier
Identification Number: https://doi.org/10.1016/j.ajhg.2017.03.008
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