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

Summary Multiple loss‐of‐function mutations in TRIAD3 (a.k.a. RNF216) have recently been identified in patients suffering from Gordon Holmes syndrome (GHS), characterized by cognitive decline, dementia, and movement disorders. TRIAD3A is an E3 ubiquitin ligase that recognizes and facilitates the ubi...

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Veröffentlicht in:	Aging cell 2017-04, Vol.16 (2), p.281-292
Hauptverfasser:	Husain, Nilofer, Yuan, Qiang, Yen, Yi‐Chun, Pletnikova, Olga, Sally, Dong Qianying, Worley, Paul, Bichler, Zoë, Shawn Je, H.
Format:	Artikel
Sprache:	eng
Schlagworte:	activity‐regulated cytoskeletal protein (Arc/Arg 3.1) Animals behavior CA1 Region, Hippocampal - pathology Cerebellar Ataxia - genetics Clathrin - metabolism Cognitive ability Cognitive Dysfunction - metabolism Cognitive Dysfunction - pathology Cytoskeletal Proteins - metabolism Cytoskeleton Dementia Dementia disorders Endocytosis Gene Knockdown Techniques Genetic aspects Gonadotropin-Releasing Hormone - deficiency Gonadotropin-Releasing Hormone - genetics Gordon Holmes syndrome HEK293 Cells Hippocampus Humans Hypogonadism - genetics learning and memory Ligases Mice, Inbred C57BL Missense mutation Movement disorders Mutation Mutation - genetics Mutation, Missense - genetics Nerve Tissue Proteins - metabolism Neurons Original Proteasomes Protein Binding Proteolysis Rats, Sprague-Dawley Receptors, AMPA - metabolism Spatial discrimination learning Spatial Memory synapse Synapses - metabolism Synapses - pathology Synaptic plasticity Synaptic Transmission TRIAD3 Ubiquitin Ubiquitin-protein ligase Ubiquitin-Protein Ligases - genetics Ubiquitin-Protein Ligases - metabolism Ubiquitination
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