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

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-proteasom...

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Published inAmerican journal of human genetics Vol. 100; no. 5; pp. 706 - 724
Main Authors 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
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 04.05.2017
Elsevier
Subjects
Adaptor Proteins, Signal Transducing - genetics
Adaptor Proteins, Signal Transducing - metabolism
Animals
autophagy
cerebellum
Disease Models, Animal
endolysosomal trafficking
Epilepsy - diagnosis
Epilepsy - genetics
Fibroblasts - metabolism
Genotyping Techniques
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Mice
Mice, Transgenic
microcephaly
Mutation
Phospholipase A2-activating protein
Proteasome Endopeptidase Complex - genetics
Proteasome Endopeptidase Complex - metabolism
Protein Conformation
Proteins - genetics
Proteins - metabolism
Purkinje Cells - metabolism
seizures
Spasms, Infantile - diagnosis
Spasms, Infantile - genetics
synapse
Synaptic Transmission
synaptic vesicle recycling
Synaptic Vesicles - metabolism
Transcriptome
ubiquitin
Ubiquitin - genetics
Ubiquitin - metabolism
Ufd3
microcephaly
Phospholipase A2-activating protein
autophagy
synaptic vesicle recycling
Ufd3
seizures
synapse
endolysosomal trafficking
ubiquitin
cerebellum
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Abstract 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 essential for synaptic function. In both human and mouse, hypomorphic mutations in the ubiquitin adaptor protein PLAA cause an infantile-lethal neurodysfunction syndrome with seizures. Resulting from perturbed endolysosomal degradation, Plaa mutant neurons accumulate K63-polyubiquitylated proteins and synaptic membrane proteins, disrupting synaptic vesicle recycling and neurotransmission. Through characterization of this neurological intracellular trafficking disorder, we establish the importance of ubiquitin-mediated endolysosomal trafficking at the synapse.
AbstractList 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 essential for synaptic function. In both human and mouse, hypomorphic mutations in the ubiquitin adaptor protein PLAA cause an infantile-lethal neurodysfunction syndrome with seizures. Resulting from perturbed endolysosomal degradation, Plaa mutant neurons accumulate K63-polyubiquitylated proteins and synaptic membrane proteins, disrupting synaptic vesicle recycling and neurotransmission. Through characterization of this neurological intracellular trafficking disorder, we establish the importance of ubiquitin-mediated endolysosomal trafficking at the synapse.
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 essential for synaptic function. In both human and mouse, hypomorphic mutations in the ubiquitin adaptor protein PLAA cause an infantile-lethal neurodysfunction syndrome with seizures. Resulting from perturbed endolysosomal degradation, Plaa mutant neurons accumulate K63-polyubiquitylated proteins and synaptic membrane proteins, disrupting synaptic vesicle recycling and neurotransmission. Through characterization of this neurological intracellular trafficking disorder, we establish the importance of ubiquitin-mediated endolysosomal trafficking at the synapse.
Author Jackson, Ian J.
Handley, Mark T.
Jackson, Mandy
Shaheen, Ranad
Nahorski, Michael S.
Murray, Lyndsay M.
Ribchester, Richard R.
Aligianis, Irene A.
Kristaryanto, Yosua
Rivagorda, Manon
Gammoh, Noor
Garcia-Munoz, Amaya
Budd, Peter
Mali, Girish R.
Kulathu, Yogesh
Hall, Emma A.
Keighren, Margaret A.
Soares, Dinesh C.
Mill, Pleasantine
Quigley, Alan J.
von Kriegsheim, Alex
Dissanayake, Kosala N.
Alkuraya, Fowzan S.
Vogt, Julie
Quidwai, Tooba
Mort, Richard L.
Jones, Ross A.
Walsh, Diana
Davey, Tracey
Maher, Eamonn R.
Woods, C. Geoffrey
Perkins, Emma
McKie, Lisa
Faqeih, Eissa
Vermeren, Matthieu
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12 Electron Microscopy Research Services, Newcastle University, Newcastle NE2 4HH, UK
4 Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK
2 Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK
11 Systems Biology Ireland, University College Dublin, Dublin, Ireland
6 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia
10 Edinburgh Cancer Research UK Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK
3 Department of Medical Genetics, University of Cambridge, and Cambridge NIHR Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge CB2 OXY, UK
5 Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK
16 Centre for Cognitive and Neural Systems, University of Edinburgh,
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/28413018$$D View this record in MEDLINE/PubMed
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ISSN 0002-9297
IngestDate Tue Sep 17 21:28:47 EDT 2024
Thu Oct 24 23:04:39 EDT 2024
Fri Dec 06 03:45:09 EST 2024
Sat Sep 28 08:29:48 EDT 2024
Fri Feb 23 02:29:27 EST 2024
IsDoiOpenAccess true
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Issue 5
Keywords microcephaly
Phospholipase A2-activating protein
autophagy
synaptic vesicle recycling
Ufd3
seizures
synapse
endolysosomal trafficking
ubiquitin
cerebellum
Language English
License This is an open access article under the CC BY license.
Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.
This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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content type line 23
These authors contributed equally to this work
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PublicationTitle American journal of human genetics
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Snippet During neurotransmission, synaptic vesicles undergo multiple rounds of exo-endocytosis, involving recycling and/or degradation of synaptic proteins. While...
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SubjectTerms Adaptor Proteins, Signal Transducing - genetics
Adaptor Proteins, Signal Transducing - metabolism
Animals
autophagy
cerebellum
Disease Models, Animal
endolysosomal trafficking
Epilepsy - diagnosis
Epilepsy - genetics
Fibroblasts - metabolism
Genotyping Techniques
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Mice
Mice, Transgenic
microcephaly
Mutation
Phospholipase A2-activating protein
Proteasome Endopeptidase Complex - genetics
Proteasome Endopeptidase Complex - metabolism
Protein Conformation
Proteins - genetics
Proteins - metabolism
Purkinje Cells - metabolism
seizures
Spasms, Infantile - diagnosis
Spasms, Infantile - genetics
synapse
Synaptic Transmission
synaptic vesicle recycling
Synaptic Vesicles - metabolism
Transcriptome
ubiquitin
Ubiquitin - genetics
Ubiquitin - metabolism
Ufd3
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Title PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
URI https://dx.doi.org/10.1016/j.ajhg.2017.03.008
https://www.ncbi.nlm.nih.gov/pubmed/28413018
https://search.proquest.com/docview/1888957942
https://pubmed.ncbi.nlm.nih.gov/PMC5420347
Volume 100
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