TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation

• Main Authors: Husain N., Yuan Q., Yen Y.-C., Pletnikova O., Sally D.Q., Worley P., Bichler Z., Shawn Je H.
• Other Authors: PHYSIOLOGY
• Format: Article
• Published: Blackwell Publishing Ltd 2020
• Subjects: activity regulated cytoskeleton associated protein; AMPA receptor; protein; RNF216 protein; TRIAD3 protein; unclassified drug; activity regulated cytoskeletal-associated protein; clathrin; cytoskeleton protein; gonadorelin; nerve protein; protein binding; RNF216 protein, mouse; ubiquitin protein ligase; animal cell; animal experiment; Article; brain cell; carboxy terminal sequence; cognitive defect; comparative study; controlled study; COS-7 cell line; degenerative disease; dorsal hippocampus; gene overexpression; genetic association; genetic variability; gordon holmes syndrome; hippocampal CA1 region; hippocampal neuronal culture; loss of function mutation; male; missense mutation; molecular weight; mouse; nerve cell plasticity; nonhuman; nonsense mutation; priority journal; protein degradation; protein expression; rat; spatial learning; synapse; synaptic transmission; ubiquitination; upregulation; animal; C57BL mouse; cerebellar ataxia; deficiency; endocytosis; gene silencing; genetics; HEK293 cell line; human; hypogonadism; metabolism; mutation; pathology; spatial memory; Sprague Dawley rat; Animals; CA1 Region, Hippocampal; Cerebellar Ataxia; Clathrin; Cognitive Dysfunction; Cytoskeletal Proteins; Endocytosis; Gene Knockdown Techniques; Gonadotropin-Releasing Hormone; HEK293 Cells; Humans; Hypogonadism; Mice, Inbred C57BL; Mutation; Mutation, Missense; Nerve Tissue Proteins; Protein Binding; Proteolysis; Rats, Sprague-Dawley; Receptors, AMPA; Spatial Memory; Synapses; Synaptic Transmission; Ubiquitin-Protein Ligases; Ubiquitination
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/173853
• Institution: National University of Singapore

10.1111/acel.12551