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https://www.readbyqxmd.com/read/28922251/shank3-regulates-intestinal-barrier-function-through-modulating-zo-1-expression-through-the-pkc%C3%AE%C2%B5-dependent-pathway
#1
Shu-Chen Wei, Hsin-Fang Yang-Yen, Po-Nien Tsao, Meng-Tzu Weng, Chien-Chih Tung, Linda C H Yu, Liang-Chuan Lai, Jen-Hao Hsiao, Eric Y Chuang, Chia-Tung Shun, Yen-Hsuan Ni, Ramnik J Xavier, Daniel K Podolsky, Jeffery J Y Yen, Jau-Min Wong
BACKGROUND: The integrity of the gut barrier in patients with inflammatory bowel disease is known to be impaired but the exact mechanisms remain mostly unknown. SHANK3 mutations are associated with autism, and patients with autism are known to have higher proportions of inflammatory bowel disease. Here, we explore the role of SHANK3 in inflammatory bowel disease, both in vivo and in vitro. METHODS: Dextran sulfate sodium colitis was induced in SHANK3 knockout mice...
August 23, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28906292/shank3-regulates-intestinal-barrier-function-through-modulating-zo-1-expression-through-the-pkc%C3%AE%C2%B5-dependent-pathway
#2
Shu-Chen Wei, Hsin-Fang Yang-Yen, Po-Nien Tsao, Meng-Tzu Weng, Chien-Chih Tung, Linda C H Yu, Liang-Chuan Lai, Jen-Hao Hsiao, Eric Y Chuang, Chia-Tung Shun, Yen-Hsuan Ni, Ramnik J Xavier, Daniel K Podolsky, Jeffery J Y Yen, Jau-Min Wong
BACKGROUND: The integrity of the gut barrier in patients with inflammatory bowel disease is known to be impaired but the exact mechanisms remain mostly unknown. SHANK3 mutations are associated with autism, and patients with autism are known to have higher proportions of inflammatory bowel disease. Here, we explore the role of SHANK3 in inflammatory bowel disease, both in vivo and in vitro. METHODS: Dextran sulfate sodium colitis was induced in SHANK3 knockout mice...
October 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28754298/a-novel-shank3-interstitial-microdeletion-in-a-family-with-intellectual-disability-and-brain-mri-abnormalities-resembling-unidentified-bright-objects
#3
Gaetano Terrone, Giuseppina Vitiello, Rita Genesio, Alessandra D'Amico, Floriana Imperati, Lorenzo Ugga, Teresa Giugliano, Giulio Piluso, Lucio Nitsch, Nicola Brunetti-Pierri, Ennio Del Giudice
BACKGROUND: SHANK3 mutations are responsible for Phelan-McDermid syndrome but they are also associated with autism and/or intellectual disability. CASE REPORT: We report a family with four affected individuals including the 37 year-old mother, her 12 year-old male monozygotic twins and 8 year-old daughter harboring a novel SHANK3 interstitial microdeletion. All four members presented with intellectual disability of variable severity. The twins showed brain abnormalities similar to Unidentified Bright Objects (UBOs), typically detected in patients with Neurofibromatosis type 1 (NF1), but they did not display causative mutations in NF1 gene...
July 20, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28753255/comprehensive-analysis-of-two-shank3-and-the-cacna1c-mouse-models-of-autism-spectrum-disorder
#4
Patricia Kabitzke, Daniela Brunner, Dansha He, Pamela A Fazio, Kimberly Cox, Jane Sutphen, Lucinda Thiede, Emily Sabath, Taleen Hanania, Vadim Alexandrov, Randall Rasmusson, Will Spooren, Anirvan Ghosh, Pamela Feliciano, Barbara Biemans, Marta Benedetti, Alice Luo Clayton
To expand, analyze, and extend published behavioral phenotypes relevant to autism spectrum disorder (ASD), we present a study of three ASD genetic mouse models: Feng's Shank3(tm2Gfng) model, hereafter Shank3/F, Jiang's Shank3(tm1Yhj) model, hereafter Shank3/J, and the Cacna1c deletion model. The Shank3 models mimick gene mutations associated with Phelan-McDermid Syndrome and the Cacna1c model recapitulates the deletion underlying Timothy syndrome. The current study utilizes both standard and novel behavioral tests with the same methodology used in our previously published companion report on the Cntnap2 null and 16p11...
July 28, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28741620/altered-neurogenesis-and-disrupted-expression-of-synaptic-proteins-in-prefrontal-cortex-of-shank3-deficient-non-human-primate
#5
Hui Zhao, Zhuchi Tu, Huijuan Xu, Sen Yan, Huanhuan Yan, Yinghui Zheng, Weili Yang, Jiezhao Zheng, Zhujun Li, Rui Tian, Youming Lu, Xiangyu Guo, Yong-Hui Jiang, Xiao-Jiang Li, Yong Q Zhang
No abstract text is available yet for this article.
July 25, 2017: Cell Research
https://www.readbyqxmd.com/read/28701918/striatal-transcriptome-and-interactome-analysis-of-shank3-overexpressing-mice-reveals-the-connectivity-between-shank3-and-mtorc1-signaling
#6
Yeunkum Lee, Sun Gyun Kim, Bokyoung Lee, Yinhua Zhang, Yoonhee Kim, Shinhyun Kim, Eunjoon Kim, Hyojin Kang, Kihoon Han
Mania causes symptoms of hyperactivity, impulsivity, elevated mood, reduced anxiety and decreased need for sleep, which suggests that the dysfunction of the striatum, a critical component of the brain motor and reward system, can be causally associated with mania. However, detailed molecular pathophysiology underlying the striatal dysfunction in mania remains largely unknown. In this study, we aimed to identify the molecular pathways showing alterations in the striatum of SH3 and multiple ankyrin repeat domains 3 (Shank3)-overexpressing transgenic (TG) mice that display manic-like behaviors...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28647360/structure-of-an-unconventional-sh3-domain-from-the-postsynaptic-density-protein-shank3-at-ultrahigh-resolution
#7
Srinivas Kumar Ponna, Matti Myllykoski, Tobias M Boeckers, Petri Kursula
The Shank family comprises three large multi-domain proteins playing central roles as protein scaffolds in the neuronal postsynaptic density. The Shank proteins are closely linked to neuropsychiatric diseases, such as autism spectrum disorders. One characteristic domain in the Shank family is the SH3 domain, assumed to play a role in protein-protein interactions; however, no specific ligand binding to any Shank SH3 domain has been described. We solved the crystal structure of the SH3 domain from Shank3 at sub-atomic resolution...
August 26, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28638591/replicable-in-vivo-physiological-and-behavioral-phenotypes-of-the-shank3b-null-mutant-mouse-model-of-autism
#8
Sameer C Dhamne, Jill L Silverman, Chloe E Super, Stephen H T Lammers, Mustafa Q Hameed, Meera E Modi, Nycole A Copping, Michael C Pride, Daniel G Smith, Alexander Rotenberg, Jacqueline N Crawley, Mustafa Sahin
BACKGROUND: Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous condition characterized by social, repetitive, and sensory behavioral abnormalities. No treatments are approved for the core diagnostic symptoms of ASD. To enable the earliest stages of therapeutic discovery and development for ASD, robust and reproducible behavioral phenotypes and biological markers are essential to establish in preclinical animal models. The goal of this study was to identify electroencephalographic (EEG) and behavioral phenotypes that are replicable between independent cohorts in a mouse model of ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28584888/autism-spectrum-disorder-neuropathology-and-animal-models
#9
REVIEW
Merina Varghese, Neha Keshav, Sarah Jacot-Descombes, Tahia Warda, Bridget Wicinski, Dara L Dickstein, Hala Harony-Nicolas, Silvia De Rubeis, Elodie Drapeau, Joseph D Buxbaum, Patrick R Hof
Autism spectrum disorder (ASD) has a major impact on the development and social integration of affected individuals and is the most heritable of psychiatric disorders. An increase in the incidence of ASD cases has prompted a surge in research efforts on the underlying neuropathologic processes. We present an overview of current findings in neuropathology studies of ASD using two investigational approaches, postmortem human brains and ASD animal models, and discuss the overlap, limitations, and significance of each...
June 5, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28576520/clinical-characterization-of-novel-chromosome-22q13-microdeletions
#10
Jennifer F Ha, Ayesha Ahmad, Marci M Lesperance
INTRODUCTION: The advent of chromosome microarray analysis (CMA) for evaluation of patients with multiple congenital anomalies has made it possible to define chromosomal imbalances with greater precision and resolutions significantly smaller than possible by standard G-banded chromosome analysis. We describe two patients with novel chromosomal anomalies involving chromosome 22q13, a locus also associated with Phelan-McDermid syndrome (PMS). OBJECTIVE: We aim to characterize the novel phenotypic and genotypic findings of two patients with 22q13 microdeletions, distinct from PMS, comparing and contrasting with features of PMS...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28551752/behavioural-phenotypes-and-neural-circuit-dysfunctions-in-mouse-models-of-autism-spectrum-disorder
#11
Allain-Thibeault Ferhat, Sonja Halbedl, Michael J Schmeisser, Martien J Kas, Thomas Bourgeron, Elodie Ey
Autism spectrum disorder (ASD) is a neurodevelopmental condition primarily characterised by alterations in social interaction and communication combined with the presence of restricted interests and stereotyped behaviours. Mutations in several genes have been associated with ASD resulting in the generation of corresponding mouse models. Here, we focus on the behavioural (social and stereotyped behaviours), functional and structural traits of mice with mutations in genes encoding defined synaptic proteins including adhesion proteins, scaffolding proteins and subunits of channels and receptors...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28493233/neurite-outgrowth-stimulated-by-oxytocin-is-modulated-by-inhibition-of-the-calcium-voltage-gated-channels
#12
M Zatkova, A Reichova, Z Bacova, V Strbak, A Kiss, J Bakos
Neuropeptide oxytocin contributes to the regulation of the neuron differentiation and cell morphology. However, the precise mechanisms are not yet fully understood. Oxytocin receptor function and its coupling to calcium entry are obvious objects of interest in relation to the neuron morphology. Postsynaptic scaffolding proteins including SHANK proteins interact with other synaptic molecules and change dendritic morphology. SH-SY5Y neuroblastoma cell line represents a useful neurobiological in vitro model to study the short-term oxytocin effects on neurite outgrowth and underlying mechanisms...
May 10, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28486223/novel-unbalanced-translocations-affecting-the-long-arms-of-chromosomes-10-and-22-cause-complex-syndromes-with-very-severe-neurodevelopmental-delay-speech-impairment-autistic-behavior-and-epilepsy
#13
Emanuele G Coci, Andrea Auhuber, Anna Langenbach, Kristin Mrasek, Joachim Riedel, Andreas Leenen, Thomas Lücke, Thomas Liehr
Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28469556/integrative-analysis-of-brain-region-specific-shank3-interactomes-for-understanding-the-heterogeneity-of-neuronal-pathophysiology-related-to-shank3-mutations
#14
Yeunkum Lee, Hyojin Kang, Bokyoung Lee, Yinhua Zhang, Yoonhee Kim, Shinhyun Kim, Won-Ki Kim, Kihoon Han
Recent molecular genetic studies have identified 100s of risk genes for various neurodevelopmental and neuropsychiatric disorders. As the number of risk genes increases, it is becoming clear that different mutations of a single gene could cause different types of disorders. One of the best examples of such a gene is SHANK3, which encodes a core scaffold protein of the neuronal excitatory post-synapse. Deletions, duplications, and point mutations of SHANK3 are associated with autism spectrum disorders, intellectual disability, schizophrenia, bipolar disorder, and attention deficit hyperactivity disorder...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28414301/striatopallidal-dysfunction-underlies-repetitive-behavior-in-shank3-deficient-model-of-autism
#15
Wenting Wang, Chenchen Li, Qian Chen, Marie-Sophie van der Goes, James Hawrot, Annie Y Yao, Xian Gao, Congyi Lu, Ying Zang, Qiangge Zhang, Katherine Lyman, Dongqing Wang, Baolin Guo, Shengxi Wu, Charles R Gerfen, Zhanyan Fu, Guoping Feng
The postsynaptic scaffolding protein SH3 and multiple ankyrin repeat domains 3 (SHANK3) is critical for the development and function of glutamatergic synapses. Disruption of the SHANK3-encoding gene has been strongly implicated as a monogenic cause of autism, and Shank3 mutant mice show repetitive grooming and social interaction deficits. Although basal ganglia dysfunction has been proposed to underlie repetitive behaviors, few studies have provided direct evidence to support this notion and the exact cellular mechanisms remain largely unknown...
May 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28400125/age-dependent-decrease-of-gad65-67-mrnas-but-normal-densities-of-gabaergic-interneurons-in-the-brain-regions-of-shank3-overexpressing-manic-mouse-model
#16
Bokyoung Lee, Yinhua Zhang, Yoonhee Kim, Shinhyun Kim, Yeunkum Lee, Kihoon Han
Dysfunction of inhibitory GABAergic interneurons is considered a major pathophysiological feature of various neurodevelopmental and neuropsychiatric disorders. The variants of SHANK3 gene, encoding a core scaffold protein of the excitatory postsynapse, have been associated with numerous brain disorders. It has been suggested that abnormalities of GABAergic interneurons could contribute to the SHANK3-related disorders, but the limitation of these studies is that they used mainly Shank3 knock-out mice. Notably, Shank3-overexpressing transgenic mice, modeling human hyperkinetic disorders, also show reduced inhibitory synaptic transmission, abnormal electroencephalography, and spontaneous seizures...
April 8, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28374752/optogenetic-activation-of-dorsal-raphe-neurons-rescues-the-autistic-like-social-deficits-in-shank3-knockout-mice
#17
Junyu Luo, Qiru Feng, Liping Wei, Minmin Luo
No abstract text is available yet for this article.
July 2017: Cell Research
https://www.readbyqxmd.com/read/28371232/investigation-of-shank3-in-schizophrenia
#18
Ana de Sena Cortabitarte, Franziska Degenhardt, Jana Strohmaier, Maren Lang, Birgit Weiss, Ralph Roeth, Ina Giegling, Stefanie Heilmann-Heimbach, Andrea Hofmann, Dan Rujescu, Christine Fischer, Marcella Rietschel, Markus M Nöthen, Gudrun A Rappold, Simone Berkel
The postsynaptic scaffolding protein SHANK3 is essential for the normal function of glutamatergic synapses in the brain. Emerging evidence suggests that impaired plasticity of glutamatergic synapses contributes to the pathology of schizophrenia (SCZ). To investigate whether variants in the SHANK3 gene contribute to the etiology of SCZ, we sequenced SHANK3 in 500 affected individuals (cohort C1). In total, we identified 48 variants and compared them to European controls from the 1000 Genomes Project and the Exome Variant Server...
March 28, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28345660/zinc-deficiency-and-low-enterocyte-zinc-transporter-expression-in-human-patients-with-autism-related-mutations-in-shank3
#19
Stefanie Pfaender, Ann Katrin Sauer, Simone Hagmeyer, Katharina Mangus, Leonhard Linta, Stefan Liebau, Juergen Bockmann, Guillaume Huguet, Thomas Bourgeron, Tobias M Boeckers, Andreas M Grabrucker
Phelan McDermid Syndrome (PMDS) is a genetic disorder characterized by features of Autism spectrum disorders. Similar to reports of Zn deficiency in autistic children, we have previously reported high incidence of Zn deficiency in PMDS. However, the underlying mechanisms are currently not well understood. Here, using inductively coupled plasma mass-spectrometry to measure the concentration of Zinc (Zn) and Copper (Cu) in hair samples from individuals with PMDS with 22q13.3 deletion including SHANK3 (SH3 and multiple ankyrin repeat domains 3), we report a high rate of abnormally low Zn/Cu ratios...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28289594/a-9-year-old-girl-with-phelan-mcdermid-syndrome-who-had-been-diagnosed-with-an-autism-spectrum-disorder
#20
I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
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