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https://www.readbyqxmd.com/read/29760409/histone-deacetylase-inhibitor-ms-275-restores-social-and-synaptic-function-in-a-shank3-deficient-mouse-model-of-autism
#1
Kaijie Ma, Luye Qin, Emmanuel Matas, Lara J Duffney, Aiyi Liu, Zhen Yan
Autism is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors. Genetic screening has identified synaptic, transcriptional, and chromatin genes disrupted in autistic patients. Haploinsufficiency of Shank3, which encodes a scaffold protein at glutamatergic synapses, is causally linked to autism. Using a Shank3-deficient mouse model that exhibits prominent autism-like phenotypes, we have found that histone acetylation in the prefrontal cortex (PFC) is abnormally low, which can be reversed by MS-275 (also known as Entinostat, SNDX-275), a class I histone deacetylase (HDAC) inhibitor that is selectively potent in PFC...
April 19, 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29735556/usp8-deubiquitinates-shank3-to-control-synapse-density-and-shank3-activity-dependent-protein-levels
#2
Meghan Kerrisk Campbell, Morgan Sheng
Mutations or altered protein levels of SHANK3 are implicated in neurodevelopmental disorders such as Phelan-McDermid syndrome, autism spectrum disorders, and schizophrenia (Guilmatre et al., 2014). Loss of SHANK3 in mouse models results in decreased synapse density and reduction in the levels of multiple synaptic proteins (Jiang and Ehlers, 2013). The family of SHANK scaffolding molecules are among the most heavily ubiquitinated proteins at the postsynaptic density. The ubiquitin-dependent proteasome degradation of SHANK is regulated by synaptic activity and may contribute to activity-dependent synaptic remodeling (Ehlers, 2003; Shin et al...
May 7, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29719671/delineation-of-the-genetic-and-clinical-spectrum-of-phelan-mcdermid-syndrome-caused-by-shank3-point-mutations
#3
Silvia De Rubeis, Paige M Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, Maria Del Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A Ting Wang, J Lloyd Holder, Catalina Betancur, Joseph D Buxbaum, Alexander Kolevzon
Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29700290/brain-region-specific-disruption-of-shank3-in-mice-reveals-a-dissociation-for-cortical-and-striatal-circuits-in-autism-related-behaviors
#4
Alexandra L Bey, Xiaoming Wang, Haidun Yan, Namsoo Kim, Rebecca L Passman, Yilin Yang, Xinyu Cao, Aaron J Towers, Samuel W Hulbert, Lara J Duffney, Erin Gaidis, Ramona M Rodriguiz, William C Wetsel, Henry H Yin, Yong-Hui Jiang
We previously reported a new line of Shank3 mutant mice which led to a complete loss of Shank3 by deleting exons 4-22 (Δe4-22) globally. Δe4-22 mice display robust ASD-like behaviors including impaired social interaction and communication, increased stereotypical behavior and excessive grooming, and a profound deficit in instrumental learning. However, the anatomical and neural circuitry underlying these behaviors are unknown. We generated mice with Shank3 selectively deleted in forebrain, striatum, and striatal D1 and D2 cells...
April 27, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29673649/auto-immune-disorders-in-a-child-with-pik3cd-variant-and-22q13-deletion
#5
Kyoko Kiyota, Koh-Ichiro Yoshiura, Ryoko Houbara, Hiroaki Miyahara, Seigo Korematsu, Kenji Ihara
22q13 deletion syndrome is a genetic disorder caused by the deletion or disruption of the segment of the long arm of chromosome 22. The characteristic clinical features of this syndrome include delayed expressive speech, autistic behavior and hypotonia, and clinically severe complications associated with autoimmunity are rarely reported. We herein report a girl with 22q13 deletion syndrome complicated with multiple inflammatory and autoimmune diseases during early childhood. We performed whole-exome sequencing to identify the genes responsible for her autoimmune diseases and identified the de novo variant p...
April 16, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29665782/a-direct-regulatory-link-between-microrna-137-and-shank2-implications-for-neuropsychiatric-disorders
#6
Ana de Sena Cortabitarte, Simone Berkel, Flavia-Bianca Cristian, Christine Fischer, Gudrun A Rappold
BACKGROUND: Mutations in the SHANK genes, which encode postsynaptic scaffolding proteins, have been linked to a spectrum of neurodevelopmental disorders. The SHANK genes and the schizophrenia-associated microRNA-137 show convergence on several levels, as they are both expressed at the synapse, influence neuronal development, and have a strong link to neurodevelopmental and neuropsychiatric disorders like intellectual disability, autism, and schizophrenia. This compiled evidence raised the question if the SHANKs might be targets of miR-137...
April 17, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29619162/crispr-cas9-induced-shank3b-mutant-zebrafish-display-autism-like-behaviors
#7
Chun-Xue Liu, Chun-Yang Li, Chun-Chun Hu, Yi Wang, Jia Lin, Yong-Hui Jiang, Qiang Li, Xiu Xu
Background: Human genetic and genomic studies have supported a strong causal role of SHANK3 deficiency in autism spectrum disorder (ASD). However, the molecular mechanism underlying SHANK3 deficiency resulting in ASD is not fully understood. Recently, the zebrafish has become an attractive organism to model ASD because of its high efficiency of genetic manipulation and robust behavioral phenotypes. The orthologous gene to human SHANK3 is duplicated in the zebrafish genome and has two homologs, shank3a and shank3b ...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29531362/social-deficits-in-shank3-deficient-mouse-models-of-autism-are-rescued-by-histone-deacetylase-hdac-inhibition
#8
Luye Qin, Kaijie Ma, Zi-Jun Wang, Zihua Hu, Emmanuel Matas, Jing Wei, Zhen Yan
Haploinsufficiency of the SHANK3 gene is causally linked to autism spectrum disorder (ASD), and ASD-associated genes are also enriched for chromatin remodelers. Here we found that brief treatment with romidepsin, a highly potent class I histone deacetylase (HDAC) inhibitor, alleviated social deficits in Shank3-deficient mice, which persisted for ~3 weeks. HDAC2 transcription was upregulated in these mice, and knockdown of HDAC2 in prefrontal cortex also rescued their social deficits. Nuclear localization of β-catenin, a Shank3-binding protein that regulates cell adhesion and transcription, was increased in Shank3-deficient mice, which induced HDAC2 upregulation and social deficits...
April 2018: Nature Neuroscience
https://www.readbyqxmd.com/read/29523295/molecular-hypotheses-to-explain-the-shared-pathways-and-underlying-pathobiological-causes-in-catatonia-and-in-catatonic-presentations-in-neuropsychiatric-disorders
#9
E M Peter-Ross
The pathobiological causes, the shared cellular and molecular pathways in catatonia and in catatonic presentation in neuropsychiatric disorders are yet to be determined. The hypotheses in this paper have been deduced from the latest scientific research findings and clinical observations of patients with genetic disorders, behavioral phenotypes and other family members suffering mental disorders. The first hypothesis postulates that catatonia and the heterogeneity of catatonic signs and symptoms involve nucleolar dysfunction arising from abnormalities of the brain-specific, non-coding micro-RNA, SNORD115 genes (either duplications or deletions) which result in pathobiological dysfunction of various combinations in the downstream pathways (possibly along with other genes in these shared pathways)...
April 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29507711/17-%C3%AE-estradiol-increases-parvalbumin-levels-in-pvalb-heterozygous-mice-and-attenuates-behavioral-phenotypes-with-relevance-to-autism-core-symptoms
#10
Federica Filice, Emanuel Lauber, Karl Jakob Vörckel, Markus Wöhr, Beat Schwaller
Background: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by two core symptoms: impaired social interaction and communication, and restricted, repetitive behaviors and interests. The pathophysiology of ASD is not yet fully understood, due to a plethora of genetic and environmental risk factors that might be associated with or causal for ASD. Recent findings suggest that one putative convergent pathway for some forms of ASD might be the downregulation of the calcium-binding protein parvalbumin (PV)...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29473168/structural-basis-for-pdz-domain-interactions-in-the-post-synaptic-density-scaffolding-protein-shank3
#11
Srinivas Kumar Ponna, Salla Ruskamo, Matti Myllykoski, Corinna Keller, Tobias M Boeckers, Petri Kursula
The Shank proteins are crucial scaffolding elements of the post-synaptic density (PSD). One of the best-characterized domains in Shank is the PDZ domain, which binds to C-terminal segments of several other PSD proteins. We carried out a detailed structural analysis of Shank3 PDZ domain-peptide complexes, in order to understand determinants of binding affinity towards different ligand proteins. Ligand peptides from four different proteins were cocrystallized with the Shank3 PDZ domain, and binding affinities were determined calorimetrically...
February 23, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29427308/shank3-mutations-and-hcn-channelopathy-one-size-does-not-fit-all
#12
Patricia Monteiro
No abstract text is available yet for this article.
April 1, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29423971/two-de-novo-novel-mutations-in-one-shank3-allele-in-a-patient-with-autism-and-moderate-intellectual-disability
#13
Wenmiao Zhu, Jianli Li, Stella Chen, Jinglan Zhang, Francesco Vetrini, Alicia Braxton, Christine M Eng, Yaping Yang, Fan Xia, Kory L Keller, Leila Okinaka-Hu, Chung Lee, J Lloyd Holder, Weimin Bi
SHANK3 encodes for a scaffolding protein that links neurotransmitter receptors to the cytoskeleton and is enriched in postsynaptic densities of excitatory synapses. Deletions or mutations in one copy of the SHANK3 gene cause Phelan-McDermid syndrome, also called 22q13.3 deletion syndrome, a neurodevelopmental disorder with common features including global developmental delay, absent to severely impaired language, autistic behavior, and minor dysmorphic features. By whole exome sequencing, we identified two de novo novel variants including one frameshift pathogenic variant and one missense variant of unknown significance in a 14-year-old boy with delayed motor milestones, delayed language acquisition, autism, intellectual disability, ataxia, progressively worsening spasticity of the lower extremities, dysmorphic features, short stature, microcephaly, failure to thrive, chronic constipation, intrauterine growth restriction, and bilateral inguinal hernias...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29408620/association-between-shank3-polymorphisms-and-susceptibility-to-autism-spectrum-disorder
#14
Shuang Qiu, Yan Li, Yong Li, Weijing Zhong, Meijuan Shi, Qian Zhao, Kaixin Zhang, Yihan Wang, Meihan Lu, Xiaojuan Zhu, Huiyi Jiang, Yaqin Yu, Yi Cheng, Yawen Liu
Autism spectrum disorder (ASD), as one of neurodevelopmental disorders, affects about 1/160 of people worldwide. The etiology and pathogenesis of ASD remain elusive. Synapses are essential components of neurons and basic information transmission unit in the nervous system, adjusting behavior to environmental stimuli and controlling body functions, memories, and emotions. SHANK3 is one of the synapse genes which play important roles in maintaining synaptic structure and function. SHANK3 has been researched as a probably susceptibility gene for ASD...
April 20, 2018: Gene
https://www.readbyqxmd.com/read/29378768/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome
#15
Nehir Kurtas, Filippo Arrigoni, Edoardo Errichiello, Claudio Zucca, Cristina Maghini, Maria Grazia D'Angelo, Silvana Beri, Roberto Giorda, Sara Bertuzzo, Massimo Delledonne, Luciano Xumerle, Marzia Rossato, Orsetta Zuffardi, Maria Clara Bonaglia
INTRODUCTION: Phelan-McDermid syndrome (PMS) is caused by SHANK3 haploinsufficiency. Its wide phenotypic variation is attributed partly to the type and size of 22q13 genomic lesion (deletion, unbalanced translocation, ring chromosome), partly to additional undefined factors. We investigated a child with severe global neurodevelopmental delay (NDD) compatible with her distal 22q13 deletion, complicated by bilateral perisylvian polymicrogyria (BPP) and urticarial rashes, unreported in PMS...
April 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29377611/developmental-social-communication-deficits-in-the-shank3-rat-model-of-phelan-mcdermid-syndrome-and-autism-spectrum-disorder
#16
Elizabeth L Berg, Nycole A Copping, Josef K Rivera, Michael C Pride, Milo Careaga, Melissa D Bauman, Robert F Berman, Pamela J Lein, Hala Harony-Nicolas, Joseph D Buxbaum, Jacob Ellegood, Jason P Lerch, Markus Wöhr, Jill L Silverman
Mutations in the SHANK3 gene have been discovered in autism spectrum disorder (ASD), and the intellectual disability, Phelan-McDermid Syndrome. This study leveraged a new rat model of Shank3 deficiency to assess complex behavioral phenomena, unique to rats, which display a richer social behavior repertoire than mice. Uniquely detectable emissions of ultrasonic vocalizations (USV) in rats serve as situation-dependent affective signals and accomplish important communicative functions. We report, for the first time, a call and response acoustic playback assay of bidirectional social communication in juvenile Shank3 rats...
April 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29358616/identification-of-22q13-genes-most-likely-to-contribute-to-phelan-mcdermid-syndrome
#17
REVIEW
Andrew R Mitz, Travis J Philyaw, Luigi Boccuto, Aleksandr Shcheglovitov, Sara M Sarasua, Walter E Kaufmann, Audrey Thurm
Chromosome 22q13.3 deletion (Phelan McDermid) syndrome (PMS) is a rare genetic neurodevelopmental disorder resulting from deletions or other genetic variants on distal 22q. Pathological variants of the SHANK3 gene have been identified, but terminal chromosomal deletions including SHANK3 are most common. Terminal deletions disrupt up to 108 protein-coding genes. The impact of these losses is highly variable and includes both significantly impairing neurodevelopmental and somatic manifestations. The current review combines two metrics, prevalence of gene loss and predicted loss pathogenicity, to identify likely contributors to phenotypic expression...
March 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29339533/learning-dependent-chromatin-remodeling-highlights-noncoding-regulatory-regions-linked-to-autism
#18
John N Koberstein, Shane G Poplawski, Mathieu E Wimmer, Giulia Porcari, Charlly Kao, Bruce Gomes, Davide Risso, Hakon Hakonarson, Nancy R Zhang, Robert T Schultz, Ted Abel, Lucia Peixoto
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder that is associated with genetic risk factors. Most human disease-associated single-nucleotide polymorphisms (SNPs) are not located in genes but rather are in regulatory regions that control gene expression. The function of regulatory regions is determined through epigenetic mechanisms. Parallels between the cellular basis of development and the formation of long-term memory have long been recognized, particularly the role of epigenetic mechanisms in both processes...
January 16, 2018: Science Signaling
https://www.readbyqxmd.com/read/29327340/shank3-deficient-thalamocortical-neurons-show-hcn-channelopathy-and-alterations-in-intrinsic-electrical-properties
#19
Mengye Zhu, Vinay Kumar Idikuda, Jianbing Wang, Fusheng Wei, Virang Kumar, Nikhil Shah, Christopher B Waite, Qinglian Liu, Lei Zhou
KEY POINTS: Shank3 increases the HCN channel surface expression in heterologous expression systems. Shank3Δ13-16 deficiency causes significant reduction in HCN2 expression and Ih current amplitude in thalamocortical (TC) neurons. Shank3Δ13-16 - but not Shank3Δ4-9 -deficient TC neurons share changes in basic electrical properties which are comparable to those of HCN2-/- TC neurons. HCN channelopathy may critically mediate events downstream from Shank3 deficiency. ABSTRACT: SHANK3 is a scaffolding protein that is highly enriched in excitatory synapses...
April 1, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29316492/synapse-to-nucleus-communication-from-developmental-disorders-to-alzheimer-s-disease
#20
REVIEW
Elena Marcello, Monica Di Luca, Fabrizio Gardoni
In the last decade several synaptonuclear protein messengers including Jacob, CRTC1, AIDA-1, ProSaP2/Shank3 and RNF10 have been identified and characterized as key players for modulation of synaptic transmission and synaptic plasticity. Activation of excitatory glutamatergic synapses leads to their shuttling from the synapse to the nucleus, mostly importin-mediated, and subsequent regulation of gene transcription needed for long lasting modifications of synaptic function. Accordingly, increasing evidences show that alterations of the activity of synaptonuclear messengers are correlated to synaptic failure as observed in different synaptopathies...
February 2018: Current Opinion in Neurobiology
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