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

10.1111/acel.12551

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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
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1738532024-11-13T05:27:28Z TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation Husain N. Yuan Q. Yen Y.-C. Pletnikova O. Sally D.Q. Worley P. Bichler Z. Shawn Je H. PHYSIOLOGY DUKE-NUS MEDICAL SCHOOL activity regulated cytoskeleton associated protein AMPA receptor protein RNF216 protein TRIAD3 protein unclassified drug activity regulated cytoskeletal-associated protein AMPA receptor 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 cognitive defect deficiency endocytosis gene silencing genetics HEK293 cell line human hypogonadism metabolism missense mutation mutation pathology spatial memory Sprague Dawley rat synaptic transmission 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 10.1111/acel.12551 Aging Cell 16 2 281-292 2020-09-01T07:56:51Z 2020-09-01T07:56:51Z 2017 Article Husain N., Yuan Q., Yen Y.-C., Pletnikova O., Sally D.Q., Worley P., Bichler Z., Shawn Je H. (2017). TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation. Aging Cell 16 (2) : 281-292. ScholarBank@NUS Repository. https://doi.org/10.1111/acel.12551 14749718 https://scholarbank.nus.edu.sg/handle/10635/173853 Blackwell Publishing Ltd Unpaywall 20200831
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	activity regulated cytoskeleton associated protein AMPA receptor protein RNF216 protein TRIAD3 protein unclassified drug activity regulated cytoskeletal-associated protein AMPA receptor 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 cognitive defect deficiency endocytosis gene silencing genetics HEK293 cell line human hypogonadism metabolism missense mutation mutation pathology spatial memory Sprague Dawley rat synaptic transmission 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
spellingShingle	activity regulated cytoskeleton associated protein AMPA receptor protein RNF216 protein TRIAD3 protein unclassified drug activity regulated cytoskeletal-associated protein AMPA receptor 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 cognitive defect deficiency endocytosis gene silencing genetics HEK293 cell line human hypogonadism metabolism missense mutation mutation pathology spatial memory Sprague Dawley rat synaptic transmission 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 Husain N. Yuan Q. Yen Y.-C. Pletnikova O. Sally D.Q. Worley P. Bichler Z. Shawn Je H. TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation
description	10.1111/acel.12551
author2	PHYSIOLOGY
author_facet	PHYSIOLOGY Husain N. Yuan Q. Yen Y.-C. Pletnikova O. Sally D.Q. Worley P. Bichler Z. Shawn Je H.
format	Article
author	Husain N. Yuan Q. Yen Y.-C. Pletnikova O. Sally D.Q. Worley P. Bichler Z. Shawn Je H.
author_sort	Husain N.
title	TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation
title_short	TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation
title_full	TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation
title_fullStr	TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation
title_full_unstemmed	TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation
title_sort	triad3/rnf216 mutations associated with gordon holmes syndrome lead to synaptic and cognitive impairments via arc misregulation
publisher	Blackwell Publishing Ltd
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/173853
_version_	1821214396453486592

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

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