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

American Journal of Human Genetics

Volumn 100, Issue 5, 2017, Pages 706-724

  Hall, Emma A ^a   Nahorski, Michael S ^b,c   Murray, Lyndsay M ^d   Shaheen, Ranad ^e   Perkins, Emma ^d   Dissanayake, Kosala N ^d,j   Kristaryanto, Yosua ^f   Jones, Ross A ^d   Vogt, Julie ^g   Rivagorda, Manon ^a   Handley, Mark T ^a   Mali, Girish R ^a   Quidwai, Tooba ^a   Soares, Dinesh C ^a,d   Keighren, Margaret A ^a   McKie, Lisa ^a   Mort, Richard L ^a   Gammoh, Noor ^d   Garcia Munoz, Amaya ^h   Davey, Tracey ⁱ   Vermeren, Matthieu ^a   Walsh, Diana ^g   Budd, Peter ^a   Aligianis, Irene A ^a   Faqeih, Eissa ^k   Quigley, Alan J ^l   Jackson, Ian J ^a   Kulathu, Yogesh ^f   Jackson, Mandy ^d   Ribchester, Richard R ^d,j   von Kriegsheim, Alex ^d,h   Alkuraya, Fowzan S ^e,m,n   Woods, C Geoffrey ^b,c   Maher, Eamonn R ^c   Mill, Pleasantine ^a   more..

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^f UNIVERSITY OF DUNDEE   (United Kingdom)

^g BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^h UNIVERSITY COLLEGE DUBLIN   (Ireland)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

^j UNIVERSITY OF EDINBURGH   (United Kingdom)

^k Children's Hospital   (Saudi Arabia)

^l ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^m ALFAISAL UNIVERSITY   (Saudi Arabia)

ⁿ KING ABDULAZIZ CITY FOR SCIENCE AND TECHNOLOGY   (Saudi Arabia)

more..

Author keywords

autophagy; cerebellum; endolysosomal trafficking; microcephaly; Phospholipase A2 activating protein; seizures; synapse; synaptic vesicle recycling; ubiquitin; Ufd3

Indexed keywords

ADAPTOR PROTEIN; LYSINE; MEMBRANE PROTEIN; PHOSPHOLIPASE A2; PHOSPHOLIPASE A2 ACTIVATING PROTEIN; POLYUBIQUITIN; SYNAPTIC MEMBRANE PROTEIN; UBIQUITIN; UNCLASSIFIED DRUG; PHOSPHOLIPASE A2-ACTIVATING PROTEIN; PROTEASOME; PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TRANSCRIPTOME;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN DISEASE; CELL CYCLE; CELL MIGRATION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOLYSOSOME; ENDOSOME; EPILEPSY; GENE MAPPING; HUMAN; HUMAN CELL; INFANT; INFANTILE EPILEPTIC ENCEPHALOPATHY; INFANTILE SPASM; LYSOSOME; MISSENSE MUTATION; MOUSE; NERVE CELL; NEUROTRANSMISSION; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN HOMEOSTASIS; PROTEIN METABOLISM; SEIZURE; SIGNAL TRANSDUCTION; SYNAPSE; SYNAPSE VESICLE; SYNAPTIC MEMBRANE; UBIQUITINATION; ANIMAL; DISEASE MODEL; FIBROBLAST; GENETICS; GENOTYPING TECHNIQUE; METABOLISM; MUTATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PROTEIN CONFORMATION; PURKINJE CELL; SPASMS, INFANTILE; SYNAPTIC TRANSMISSION; TRANSGENIC MOUSE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; DISEASE MODELS, ANIMAL; EPILEPSY; FIBROBLASTS; GENOTYPING TECHNIQUES; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MICE; MICE, TRANSGENIC; MUTATION; PROTEASOME ENDOPEPTIDASE COMPLEX; PROTEIN CONFORMATION; PROTEINS; PURKINJE CELLS; SPASMS, INFANTILE; SYNAPTIC TRANSMISSION; SYNAPTIC VESICLES; TRANSCRIPTOME; UBIQUITIN;

EID: 85017446093     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.03.008     Document Type: Article

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