Genomes and Genes
Gene Symbol: SHANK3
Description: SH3 and multiple ankyrin repeat domains 3
Alias: DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2, SH3 and multiple ankyrin repeat domains protein 3, proline rich synapse associated protein 2, shank postsynaptic density protein
Publications106 found, 100 shown here
- The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42Michaela Soltau
Institut fur Zellbiochemie und klinische Neurobiologie, Universitatskrankenhaus Eppendorf, Hamburg, Germany
Mol Cell Neurosci 21:575-83. 2002..Thus, IRSp53 constitutes a cdc42-regulated ligand for shank1 which may provide a molecular basis for small G-protein mediated effects on the structure of the postsynaptic complex...
- Synaptic contacts between identified neurons visualized in the confocal laser scanning microscope. Neuroanatomical tracing combined with immunofluorescence detection of post-synaptic density proteins and target neuron-markersFloris G Wouterlood
Department of Anatomy, Graduate School of Neurosciences, Research Institute Neuroscience Vrije Universiteit Medical Center, 7, Van der Boechorststraat, 1081 BT Amsterdam, Netherlands
J Neurosci Methods 128:129-42. 2003..We used morphological criteria for the detection of axon terminals (swellings on fibers). Antibodies against ProSAP2/Shank3, a post-synaptic density-associated scaffolding protein, were used to pinpoint the location of the ..
- Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndromeM C Bonaglia
J Med Genet 43:822-8. 2006..We report the molecular characterisation of the deletion breakpoint in two unrelated chromosome 22q13.3 deletion cases...
- Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disordersChristelle M Durand
Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
Nat Genet 39:25-7. 2007SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome...
- Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityFadi F Hamdan
Centre of Excellence in Neuromics of Université de Montréal, Sainte Justine Hospital Research Centre, Montreal, Canada
Am J Hum Genet 88:306-16. 2011..De novo truncating and/or splicing mutations in SYNGAP1, STXBP1, and SHANK3 were found in six patients and are likely to be pathogenic...
- De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophreniaJulie Gauthier
Department of Medicine, Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de L Universite de Montreal Research Center, Universite de Montreal, Montreal, QC H2L 2W5, Canada
Proc Natl Acad Sci U S A 107:7863-8. 2010..We studied the gene encoding the synaptic protein SHANK3 in 285 controls and 185 schizophrenia patients with unaffected parents...
- 22q13.3 deletion syndrome: clinical and molecular analysis using array CGHS U Dhar
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 152:573-81. 2010..Two patients had a smaller 95 kb terminal deletion with breakpoints within the SHANK3 gene while three other patients had a similar 5.5 Mb deletion implying the recurrent nature of these deletions...
- ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological diseaseTobias M Boeckers
AG Molecular Neurobiology, Institute of Anatomy, UKM, Westfaelische Wilhelms University, Munster, Germany
J Neurochem 81:903-10. 2002..3 distal deletion syndrome revealed a balanced translocation with a breakpoint in the human ProSAP2/Shank3 gene...
- The Shank family of scaffold proteinsM Sheng
Howard Hughes Medical Institute and Department of Neurobiology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
J Cell Sci 113:1851-6. 2000..The specific localization of Shank proteins at postsynaptic sites of brain excitatory synapses suggests a role for this family of proteins in the organization of cytoskeletal/ signaling complexes at specialized cell junctions...
- Contribution of SHANK3 mutations to autism spectrum disorderRainald Moessner
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, M5G 1L7, Canada
Am J Hum Genet 81:1289-97. 2007Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD)...
- Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain Shank protein family interact with the cytoskeletal protein alpha-fodrinT M Bockers
Arbeitsgruppe Molekulare Neurobiologie, Institut fur Anatomie, Westfalische Wilhelms Universitat, 48149 Munster, Germany
J Biol Chem 276:40104-12. 2001..Our data indicate that the Shank1 and -3 family members provide multiple independent connections between synaptic glutamate receptor complexes and the cytoskeleton...
- Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP familyT M Boeckers
Department of Neurochemistry and Molecular Biology, Leibniz Institute for Neurobiology, Magdeburg, 39118, Germany
Biochem Biophys Res Commun 264:247-52. 1999..A closely related multidomain protein, ProSAP2, shares a highly conserved PDZ (PSD-95/discs-large/ZO-1) domain (80% identity), a ppI domain that mediates the ..
- SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanismC M Durand
Planar Polarity and Plasticity Group, Neurocentre Magendie, Laboratory of Pathophysiology of Neural Plasticity, INSERM U862, Bordeaux, France
Mol Psychiatry 17:71-84. 2012..At the synapse, Shank3/ProSAP2 is a scaffolding protein that connects glutamate receptors to the actin cytoskeleton via a chain of intermediary ..
- Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndromeM C Bonaglia
IRCCS E Medea, 23842 Bosisio Parini, Lecco, Italy
Am J Hum Genet 69:261-8. 2001..intron of the FLJ10659 gene and located the chromosome 22 breakpoint within exon 21 of the human homologue of the ProSAP2 gene. Short homologous sequences (5-bp, CTG[C/A]C) were found at the breakpoint on both derivative chromosomes...
- Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and developmentS Lim
Department of Pharmacology, Pusan National University, Kumjeong Ku, Pusan 609 735, Korea
J Biol Chem 274:29510-8. 1999Shank1, Shank2, and Shank3 constitute a family of proteins that may function as molecular scaffolds in the postsynaptic density (PSD)...
- Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3A Delahaye
Histology Embryology Cytogenetics Department, APHP Jean Verdier University Hospital, UFR SMBH, Paris 13 University, Bondy, France
Eur J Med Genet 52:328-32. 2009..Among the three genes in the minimal critical region (from the centromere to the telomere: SHANK3, ACR and RABL2B), the defect in the SHANK3 gene is considered to be the cause of the neurobehavioral symptoms.
- Multiple rare variants in the etiology of autism spectrum disordersJoseph D Buxbaum
Laboratory of Molecular Neuropsychiatry, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
Dialogues Clin Neurosci 11:35-43. 2009..interest are the synaptic cell adhesion and associated molecules, including neurexin 1, neuroligin 3 and 4, and SHANK3, which implicate glutamatergic synapse abnormalities in ASDs...
- Novel de novo SHANK3 mutation in autistic patientsJulie Gauthier
Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Notre Dame Hospital, Universite de Montreal, Montreal, QC, Canada
Am J Med Genet B Neuropsychiatr Genet 150:421-4. 2009..More recently de novo mutations in the SHANK3 gene, a synaptic scaffolding protein, have been associated with the ASD phenotype...
- Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic densityT M Boeckers
Leibniz Institute for Neurobiology, 39118 Magdeburg, Germany
J Neurosci 19:6506-18. 1999..Homology screening identified a related protein, ProSAP2. Specific antisera raised against a C-terminal fusion construct and a central part of ProSAP1 detect a cluster of ..
- DNA methylation regulates tissue-specific expression of Shank3Silvana Beri
E Medea Scientific Institute, Bosisio Parini, LC, Italy
J Neurochem 101:1380-91. 2007Tissue-specific gene expression can be controlled by epigenetic modifications such as DNA methylation. SHANK3, together with its homologues SHANK1 and SHANK2, has a central functional and structural role in excitatory synapses and is ..
- Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptomsH L Wilson
Department of Biological Sciences, University of Alberta, Edmonton, Alberta T6G 2E9, Canada
J Med Genet 40:575-84. 2003..We have determined the deletion size and parent of origin in 56 patients with this syndrome...
- Synapse structure: glutamate receptors connected by the shanksM D Ehlers
Department of Neurobiology, Duke University Medical Center, Durham, 27710, USA
Curr Biol 9:R848-50. 1999..A family of proteins has been identified whose members, the Shanks, physically link two major receptor complexes at excitatory synapses - NMDA receptors and metabotropic glutamate receptors...
- Molecular and phenotypic characterization of ring chromosome 22Aaron R Jeffries
Department of Neuroscience, Institute of Psychiatry, Denmark Hill, London SE5 8AF, United Kingdom
Am J Med Genet A 137:139-47. 2005..Loss of the SHANK3/PROSAP2 gene has been proposed to be responsible for the main neurological developmental deficits observed in 22q13 ..
- Deletion 22q13.3 syndromeMary C Phelan
Cytogenetics Laboratory, Molecular Pathology Laboratory Network, 250 East Broadway, Maryville, TN 37804, USA
Orphanet J Rare Dis 3:14. 2008..and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene...
- Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collectionNuala H Sykes
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
Eur J Hum Genet 17:1347-53. 2009b>SHANK3 is located on chromosome 22q13.3 and encodes a scaffold protein that is found in excitatory synapses opposite the pre-synaptic active zone...
- The Shank family of postsynaptic density proteins interacts with and promotes synaptic accumulation of the beta PIX guanine nucleotide exchange factor for Rac1 and Cdc42Eunhye Park
Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon 305 701, Korea
J Biol Chem 278:19220-9. 2003..Considering the involvement of Rac1 and PAK in spine dynamics, these results suggest that Shank recruits beta PIX and PAK to spines for the regulation of postsynaptic structure...
- Proline-rich synapse-associated protein-1 and 2 (ProSAP1/Shank2 and ProSAP2/Shank3)-scaffolding proteins are also present in postsynaptic specializations of the peripheral nervous systemM Raab
Department of Anatomy I, University of Erlangen Nuremberg, Krankenhausstrasse 9, 91054 Erlangen, Germany
Neuroscience 171:421-33. 2010Proline-rich synapse-associated protein-1 and 2 (ProSAP1/Shank2 and ProSAP2/Shank3) were originally found as synapse-associated protein 90/postsynaptic density protein-95-associated protein (SAPAP)/guanylate-kinase-associated protein (..
- Characterization of an ankyrin repeat-containing Shank2 isoform (Shank2E) in liver epithelial cellsRyan R McWilliams
Department of Medicine, University of Colorado Health Sciences Center, Denver, CO 80439, USA
Biochem J 380:181-91. 2004..Unlike Shank1 and Shank3, Shank2 [also known as Pro-SAP1 (proline-rich synapse-associated protein 1), CortBP1 (cortactin binding protein 1) ..
- Efficient targeting of proteins to post-synaptic densities of excitatory synapses using a novel pSDTarget vector systemAndreas M Grabrucker
Institute for Anatomy and Cell Biology, Ulm University, Albert Einstein Allee 11, D 89081 Ulm, Germany
J Neurosci Methods 181:227-34. 2009..For the post-synaptic scaffolding proteins of excitatory synapses, ProSAP1/Shank2 and ProSAP2/Shank3 this targeting information is located within about 460aa of the C-terminus...
- Synaptic cross-talk between N-methyl-D-aspartate receptors and LAPSER1-beta-catenin at excitatory synapsesMichael J Schmeisser
Institute for Anatomy and Cell Biology, Ulm University, 89081 Ulm, Germany
J Biol Chem 284:29146-57. 2009..Here, we characterize LAPSER1, a putative cytokinetic tumor suppressor that binds directly to ProSAP2/Shank3 and the synaptic Rap-Gap protein SPAR1 as a novel postsynaptic density component...
- Structural variation of chromosomes in autism spectrum disorderChristian R Marshall
The Centre for Applied Genomics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada
Am J Hum Genet 82:477-88. 2008..Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11,..
- ProSAPiP2, a novel postsynaptic density protein that interacts with ProSAP2/Shank3Stefan Liebau
Institute of Anatomy and Cell Biology, Albert Einstein Allee 11, 89081 Ulm, Germany
Biochem Biophys Res Commun 385:460-5. 2009..Here, we characterize a novel interaction partner of ProSAP2/Shank3, named ProSAP interacting protein 2 (ProSAPiP2) that does not show any close homology to other known ..
- Expression of postsynaptic density proteins of the ProSAP/Shank family in the thymusPeter Redecker
Department of Cell Biology, Center of Anatomy, Hannover Medical School, Carl Neuberg Str 1, 30625 Hannover, Germany
Histochem Cell Biol 126:679-85. 2006..e., the thymus. Transcripts for ProSAP1/Shank2, the spliceoform Shank2E, and ProSAP2/Shank3 could be clearly detected in the thymus...
- Homer1a-dependent crosstalk between NMDA and metabotropic glutamate receptors in mouse neuronsFederica Bertaso
Departement of Neurobiology, Institut de Genomique Fonctionnelle, CNRS UMR 5203, INSERM U661, Université de Montpellier 1 and 2, Montpellier, France
PLoS ONE 5:e9755. 2010..Whether such a versatile link supports functional crosstalk between the receptors is unknown...
- Genetics of autism spectrum disordersRavinesh A Kumar
Department of Human Genetics, University of Chicago, 920 East 58th Street, MC0077, Chicago, IL 60637, USA
Curr Neurol Neurosci Rep 9:188-97. 2009..studies and mutation analysis of candidate genes have implicated the synaptic genes NRXN1, NLGN3, NLGN4, SHANK3, and CNTNAP2 in ASDs...
- Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2Joanna Giza
Department of Biological Sciences, Hunter College, City University of New York, New York, New York 10065, USA
J Neurosci 30:14805-16. 2010Deletion of the human SHANK3 gene near the terminus of chromosome 22q is associated with Phelan-McDermid syndrome and autism spectrum disorders. Nearly all such deletions also span the tightly linked IB2 gene...
- A general screening strategy for peptide-based fluorogenic ligands: probes for dynamic studies of PDZ domain-mediated interactionsMatthieu Sainlos
Department of Chemistry, Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, Massachusetts 02139 4307, USA
J Am Chem Soc 131:6680-2. 2009..series of peptides derived from the C-terminal sequence of Stargazin was first used with PDZ domains of PSD-95 and Shank3 to identify the optimal position and linker length for the 4-DMAP chromophore...
- A synaptic trek to autismThomas Bourgeron
Human Genetics and Cognitive Functions, Institut Pasteur, 25 rue du Docteur Roux, 75015 Paris, France
Curr Opin Neurobiol 19:231-4. 2009..Mutations in NLGN3/4, SHANK3, or NRXN1 alter synaptic function and lead to mental retardation, typical autism, or Asperger syndrome...
- Transsynaptic signaling by postsynaptic synapse-associated protein 97Maria Paz Regalado
Department of Psychiatry and Behavioral Sciences, Nancy Pritzker Laboratory, Stanford University, Palo Alto, California 94304 5485, USA
J Neurosci 26:2343-57. 2006..postsynaptic proteins to synapses including glutamate receptor 1, Shank1a, SPAR (spine-associated RapGAP), and proSAP2. Furthermore, inhibition of several different transsynaptic signaling proteins including cadherins, integrins, ..
- [Autism: more evidence of a genetic cause]Thomas Bourgeron
Laboratoire de génétique humaine et fonctions cognitives, Institut Pasteur, 25, rue du Dr Roux 75015 Paris
Bull Acad Natl Med 193:299-304; discussion 304-5. 2009..synaptic pathway, including synaptic cell adhesion molecules (neuroligins and neurexins) and scaffolding proteins (SHANK3)...
- SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic propertiesKihoon Han
1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA 2 Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA 3 Jan and Dan Duncan Neurological Research Institute at Texas Children s Hospital, Houston, Texas 77030, USA
Nature 503:72-7. 2013Mutations in SHANK3 and large duplications of the region spanning SHANK3 both cause a spectrum of neuropsychiatric disorders, indicating that proper SHANK3 dosage is critical for normal brain function...
- Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmissionMehreen Kouser
Departments of Neurology and Neurotherapeutics and Psychiatry, University of Texas Southwestern Medical Center, Dallas, Texas 75390 8813, and Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
J Neurosci 33:18448-68. 2013The Shank3 gene encodes a scaffolding protein that anchors multiple elements of the postsynaptic density at the synapse...
- ProSAP/Shank postsynaptic density proteins interact with insulin receptor tyrosine kinase substrate IRSp53J Bockmann
AG Molecular Neurobiology, Institute of Anatomy, UKM, Westfaelische Wilhelms University, Munster, Germany
J Neurochem 83:1013-7. 2002..The specificity of this interaction was confirmed in transfected COS cells. Co-immunoprecipitation of IRSp53 and ProSAP2 solubilized from rat brain membranes indicates that the interaction occurs in vivo...
- SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patientsAleksandr Shcheglovitov
Department of Neurobiology, Stanford University, Stanford, California 94305, USA
Nature 503:267-71. 2013..PMDS is caused by heterozygous deletions of chromosome 22q13.3. Among the genes in the deleted region is SHANK3, which encodes a protein in the postsynaptic density (PSD)...
- Genetic copy number variation and general cognitive abilityAndrew K MacLeod
Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, United Kingdom
PLoS ONE 7:e37385. 2012..regions previously implicated in neuropsychological disorders, we find suggestive evidence that CNV regions around SHANK3 are associated with fluid intelligence as derived from a battery of cognitive tests...
- Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathiesAndreas M Grabrucker
Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany
Trends Cell Biol 21:594-603. 2011..We thus propose a model where ProSAP/Shank proteins are in the center of a postsynaptic signaling pathway that is disrupted in several neuropsychiatric disorders...
- Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype mapsAleksander Jamsheer
Center for Medical Genetics, Poznan, Poland
J Appl Genet 49:397-405. 2008We report on 3 kindred patients with terminal 11q monosomy and distal 22q trisomy involving the SHANK3 gene, resulting from a subtle familial translocation t(11;22)(q24.2;q13.33)...
- Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autismM Ali Bangash
Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Cell 145:758-72. 2011We have created a mouse genetic model that mimics a human mutation of Shank3 that deletes the C terminus and is associated with autism...
- Postsynaptic shank antagonizes dendrite branching induced by the leucine-rich repeat protein Densin-180Arne Quitsch
Institut fur Zellbiochemie und klinische Neurobiologie, Universitätskrankenhaus Hamburg Eppendorf, 20246 Hamburg, Germany
J Neurosci 25:479-87. 2005..Coexpression of shank3 abrogates branch formation and targets Densin-180 into postsynaptic clusters instead...
- SHANK1 Deletions in Males with Autism Spectrum DisorderDaisuke Sato
The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 90:879-87. 2012..The SHANK gene family consists of three members (SHANK1, SHANK2, and SHANK3), which encode scaffolding proteins required for the proper formation and function of neuronal synapses...
- Altered social behavior and neuronal development in mice lacking the Uba6-Use1 ubiquitin transfer systemPeter C W Lee
Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
Mol Cell 50:172-84. 2013..The levels of the E3 ubiquitin ligase Ube3a (E6-AP) and Shank3, both linked with dendritic spine function, are elevated in the amygdala of Uba6-deficient mice, while levels of ..
- SHANK3 as an autism spectrum disorder-associated geneShigeo Uchino
Department of Neurochemistry, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
Brain Dev 35:106-10. 2013b>SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density of excitatory synapses, and plays important roles in the formation, maturation, and maintenance of synapses...
- Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersLuigi Boccuto
Greenwood Genetic Center, Greenwood, SC, USA
Eur J Hum Genet 21:310-6. 2013..are involved in the neuroligin-neurexin interaction at the glutamate synapse: NLGN3, NLGN4, NRXN1, CNTNAP2, and SHANK3. We screened this last gene in two cohorts of ASD patients (133 patients from US and 88 from Italy)...
- Heterozygous loss of NF2 is an early molecular alteration in well-differentiated papillary mesothelioma of the peritoneumHiroshi Nemoto
Department of Surgery, Showa University Fujigaoka Hospital, Yokohama, Japan
Cancer Genet 205:594-8. 2012..Furthermore, SNP analyses determined that LOH was observed in the IL17RA (22q11.1), CHECK2 (22q12.1), and SHANK3 (22q13.3) genes, thus suggesting that NF2 loss occurred through 22q deletions or monosomy 22...
- Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3Tsui Ting Ching
The Brain Tumor Research Center, Department of Neurological Surgery and the Biomedical Sciences Program, University of California San Francisco, San Franciso, California 94143, USA
Nat Genet 37:645-51. 2005..The methylation status of the CpG islands is associated with gene expression for several genes, including SHANK3, which encodes a structural protein in neuronal postsynaptic densities...
- High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autismRaymond J Kelleher
Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America
PLoS ONE 7:e35003. 2012..autism cases for three pathway genes previously implicated in syndromic autism spectrum disorder, TSC1, TSC2, and SHANK3, suggesting that genetic variation in these genes also contributes to risk for non-syndromic autism...
- High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disabilityXiaohong Gong
The State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China
PLoS ONE 7:e34739. 2012..24%, much lower than our report. The overlapping region shared by all 4 cases encompasses the gene SHANK3. A heterozygous de novo nonsense mutation Y1015X of SHANK3 was identified in one ID patient...
- Phospholipase Cbeta1b associates with a Shank3 complex at the cardiac sarcolemmaDavid R Grubb
Baker International Diabetes Institute, 75 Commercial Road, Melbourne, 3004, Vic, Australia
FASEB J 25:1040-7. 2011..but not PLCβ1a, coimmunoprecipitated with the high-MW scaffolding protein SH3 and ankyrin repeat protein 3 (Shank3), as well as the known Shank3-interacting protein α-fodrin...
- Gene and miRNA expression profiles in autism spectrum disordersMohammad M Ghahramani Seno
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
Brain Res 1380:85-97. 2011..and highly-penetrant gene variants and copy number variation (CNV) regions including NLGN3, NLGN4, NRXN1, SHANK2, SHANK3, PTCHD1, 1q21.1, maternally-inherited duplication of 15q11-q13, 16p11...
- Interaction of G-protein-coupled receptors with synaptic scaffolding proteinsH J Kreienkamp
Institut fur Zellbiochemie und klinische Neurobiologie, Universitatskrankenhaus Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
Biochem Soc Trans 30:464-8. 2002..ProSAP)/somatostatin receptor-interacting protein (SSTRIP) family of postsynaptic proteins (SSTRIP, ProSAP1 and ProSAP2, also known as shank1-shank3 respectively)...
- Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilitiesAlexander Kolevzon
Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, NY 10029, USA
Brain Res 1380:98-105. 2011..In the current report, we present our molecular analysis of a child with a purported disruptive mutation in SHANK3 identified by a commercial genetic testing laboratory and we provide evidence that this was not an etiological ..
- Association study of SHANK3 gene polymorphisms with autism in Chinese Han populationJian Qin
Institute of Mental Health, Peking University, Beijing, PR China
BMC Med Genet 10:61. 2009..Recently, abnormalities at the synapse are supposed to be important for the etiology of autism.SHANK3 (SH3 and multiple ankyrin repeat domains protein) gene encodes a master synaptic scaffolding protein at ..
- Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behaviorMarkus Wohr
Laboratory of Behavioral Neuroscience, National Institute of Mental Health, Bethesda, Maryland, United States of America
PLoS ONE 6:e20631. 2011..Candidate genes for autism include the SHANK gene family, as mutations in SHANK2 and SHANK3 have been detected in several autistic individuals...
- A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadismD Misceo
Faculty of Medicine, Institute of Medical Genetics, University of Oslo, Oslo, Norway
Am J Med Genet A 155:403-8. 2011Chromosome 22q13 monosomy has been described as a contiguous gene syndrome. Localized in the critical region, SHANK3 is likely to play a key role in the expression of the clinical phenotype...
- FISH-mapping of a 100-kb terminal 22q13 deletionBritt Marie Anderlid
Department of Molecular Medicine, CMM, L8 02, Clinical Genetics Unit, Karolinska Institutet at Karolinska Hospital, 171 76 Stockholm, Sweden
Hum Genet 110:439-43. 2002..Three genes are affected by the deletion in this patient. ACR and RABL2B are deleted and proSAP2 is disrupted...
- Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech developmentChikako Waga
Department of Neurochemistry, National Institute of Neuroscience, Tokyo, Japan
Psychiatr Genet 21:208-11. 2011..Cumulative evidence has shown that haploinsufficiency of the SHANK3 gene is a major cause of the neurological symptoms of the 22q13.3 deletion syndrome...
- [Copy-number variations of SHANK3 and related clinical phenotypes in children with autism]Bi Yuan Chen
Department of Child Developmental Behavioral Center, The Third Affiliated Hospital of Sun Yat Sen University, Guangzhou 510630, China
Zhonghua Er Ke Za Zhi 49:607-11. 2011To explore possible relationship between copy-number variations (CNVs) in 15q11-13, 16p11 and SHANK3 gene by using multiplex ligation-dependent probe amplification (MLPA) and the phenotypes in children with autism and to further explore ..
- The spatio-temporal expression of ProSAP/shank family members and their interaction partner LAPSER1 during Xenopus laevis developmentSusanne Gessert
Institute for Biochemistry and Molecular Biology, Ulm University, Ulm, Germany
Dev Dyn 240:1528-36. 2011..We investigated for the first time the expression of the three family members named Shank1, ProSAP1/Shank2, and ProSAP2/Shank3 during Xenopus laevis development...
- Quantitative neuroproteomics of an in vivo rodent model of focal cerebral ischemia/reperfusion injury reveals a temporal regulation of novel pathophysiological molecular markersArnab Datta
School of Biological Sciences, Nanyang Technological University, Singapore
J Proteome Res 10:5199-213. 2011..Several regulated proteins (Caskin1, Shank3, Kpnb1, Uchl1, Mtap6, Epb4.1l1, Apba1, and Ube1x) novel in the context of stroke were also discovered...
- Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapsesChiara Verpelli
Department of Pharmacology, CNR Institute of Neuroscience, University of Milan, Milan 20129, Italy
J Biol Chem 286:34839-50. 2011Shank3/PROSAP2 gene mutations are associated with cognitive impairment ranging from mental retardation to autism...
- Association study of the CNS patterning genes and autism in Han Chinese in TaiwanYi Ling Chien
Department of Psychiatry, National Taiwan University Hospital, Taipei, Taiwan
Prog Neuropsychopharmacol Biol Psychiatry 35:1512-7. 2011..This study investigated four candidate genes (WNT2, EN2, SHANK3, and FOXP2) by a tag SNP approach in a family-based association study...
- Discovery, structure-activity relationship studies, and crystal structure of nonpeptide inhibitors bound to the Shank3 PDZ domainJörn Saupe
Leibniz Institut fur Molekulare Pharmakologie FMP, Robert Rossle Str 10, 13125 Berlin, Germany
ChemMedChem 6:1411-22. 2011..Here, small-molecule inhibitors of Shank3 PDZ domain are developed...
- Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndromeOliver Bartsch
Johannes Gutenberg University Mainz, Institute of Human Genetics, Mainz, Germany
Am J Med Genet A 152:2099-102. 2010..PIM3 is a prime candidate gene for the fulminant hepatic failure in the two patients; SHANK3/PROSAP2 could be another candidate gene...
- Conserved role of intragenic DNA methylation in regulating alternative promotersAlika K Maunakea
Brain Tumor Research Center, Department of Neurosurgery, Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California 94158, USA
Nature 466:253-7. 2010..An in-depth investigation of the human SHANK3 locus and its mouse homologue demonstrated that this tissue-specific DNA methylation regulates intragenic promoter ..
- 22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome?Nobuhiko Okamoto
Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
Am J Med Genet A 143:2804-9. 2007..22q-subtelomeric probes performed in both patients showed a submicroscopic 22q13 duplication that involved the SHANK3 gene...
- Replication study of candidate genes for cognitive abilities: the Lothian Birth Cohort 1936L M Houlihan
Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, UK
Genes Brain Behav 8:238-47. 2009..The genes include BDNF, COMT, DISC1, KL, NCSTN, PPP1R1B, PRNP, SHANK3, SORL1 and WRN...
- Mutations in the gene encoding CADM1 are associated with autism spectrum disorderYu Zhiling
Department of Pediatrics, Jichi Medical University, 3311 1 Yakushiji, Shimotsukeshi, Tochigi 329 0498, Japan
Biochem Biophys Res Commun 377:926-9. 2008..of Autism Spectrum Disorder (ASD) is still unknown although mutations in genes encoding neuroligins and SHANK3 have been shown in a small part of the patients...
- The actin-binding protein Abp1 controls dendritic spine morphology and is important for spine head and synapse formationAkvile Haeckel
Institute for Biochemistry I, Friedrich Schiller University Jena, 07743 Jena, Germany
J Neurosci 28:10031-44. 2008..Abp1 hereby works in close conjunction with ProSAP1/Shank2 and ProSAP2/Shank3, because Abp1 effects were suppressed by ProSAP2 RNA interference and the ProSAP/Shank-induced increase of ..
- ProSAP-interacting protein 1 (ProSAPiP1), a novel protein of the postsynaptic density that links the spine-associated Rap-Gap (SPAR) to the scaffolding protein ProSAP2/Shank3Doreen Wendholt
Institute for Anatomy and Cell Biology, Ulm University, 89081 Ulm, Germany
J Biol Chem 281:13805-16. 2006..ProSAPiP1 is widely expressed in rat brain and co-localizes with ProSAP2/Shank3 in excitatory spines and synapses...
- Heterogeneous dysregulation of microRNAs across the autism spectrumKawther Abu-Elneel
Neuroscience Research Institute, Department of Molecular Cellular and Developmental Biology, University of California Santa Barbara, Santa Barbara, CA 93106, USA
Neurogenetics 9:153-61. 2008..the predicted targets of dysregulated miRNAs are genes that are known genetic causes of autism such Neurexin and SHANK3. This study finds that altered miRNA expression levels are observed in postmortem cerebellar cortex from autism ..
- Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language developmentHeather L Wilson
Department of Biological Sciences, University of Alberta, Edmonton, Alberta, Canada
Eur J Hum Genet 16:1301-10. 2008..deficits associated with 22q13 terminal deletions have been attributed in large part to haploinsufficiency of SHANK3, which maps to all 22q13 terminal deletions, although more proximal genes are assumed to have minor effects...
- Direct interaction of post-synaptic density-95/Dlg/ZO-1 domain-containing synaptic molecule Shank3 with GluR1 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptorShigeo Uchino
Department of Neurochemistry, National Institute of Neuroscience, Kodaira, Tokyo, Japan
J Neurochem 97:1203-14. 2006..the cytoplasmic tail of the GluR1 subunit of AMPA receptor as a bait and identified a synaptic molecule, Shank3/ProSAP2, as a GluR1 subunit-interacting molecule...
- Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported associationMaria Tufano
Pediatric Liver Unit, Department of Pediatrics, University of Naples Federico II, Via S Pansini 5, 80131 Naples, Italy
Eur J Pediatr 168:225-7. 2009..Recently, it has been suggested that the Shank3 gene product, whose deficiency is responsible for the features observed in this syndrome, could play a role in ..
- [Neurodevelopmental disturbance in the pathogenesis of major mental disorders]Atsushi Kamiya
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, 600 N Wolfe Street, CMSC 9 120, Baltimore MD 21287, USA
Brain Nerve 60:445-52. 2008..Majority of these genetic factors, such as Neuroligins, SHANK3, Neureglin-1, Dysbindin, and Disrupted-in-Schizophrenia-1 (DISC1) are associated with "synapse...
- The possible interplay of synaptic and clock genes in autism spectrum disordersT Bourgeron
Department of Neuroscience, Institut Pasteur, Paris, France
Cold Spring Harb Symp Quant Biol 72:645-54. 2007..which includes the synaptic cell adhesion molecules NLGN3, NLGN4, and NRXN1 and a postsynaptic scaffolding protein SHANK3. This protein complex is crucial for the maintenance of functional synapses as well as the adequate balance ..
- Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1Albert Y Hung
The Institute of Physical and Chemical Research RIKEN Massachusetts Institute of Technology Neuroscience Research Center, Cambridge, Massachusetts 02139, USA
J Neurosci 28:1697-708. 2008..Recently, Shank3 has been genetically implicated in human autism, suggesting an important role for Shank proteins in normal ..
- A role for zinc in postsynaptic density asSAMbly and plasticity?Eckart D Gundelfinger
Department of Neurochemistry and Molecular Biology, Leibniz Institute for Neurobiology, Brenneckestrasse 6, 39118 Magdeburg, Germany
Trends Biochem Sci 31:366-73. 2006..A recent study has shown that the C-terminal sterile alpha-motif or "SAM domain" of Shank3 (also known as ProSAP2) can form two-dimensional sheets of helical fibers...
- Kalirin-7 is an essential component of both shaft and spine excitatory synapses in hippocampal interneuronsXin Ming Ma
Department of Neuroscience, University of Connecticut Health Center, Farmington, Connecticut 06030, USA
J Neurosci 28:711-24. 2008..Kal7 thus joins Shank3 and GluR2 as molecules with a level of expression at excitatory synapses that titrates the number of dendritic ..
- The cytoskeletal scaffold Shank3 is recruited to pathogen-induced actin rearrangementsAlan Huett
Gastrointestinal Unit, Center for the Study of Inflammatory Bowel Diseases, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
Exp Cell Res 315:2001-11. 2009..The PDZ domain-containing protein Shank3, is a large cytoskeletal scaffold protein with known functions in neuronal morphology and synaptic signaling, and ..
- An architectural framework that may lie at the core of the postsynaptic densityMarisa K Baron
Department of Chemistry and Biochemistry, Molecular Biology Institute, University of California, Los Angeles, 611 Charles E Young Drive East, Los Angeles, CA 90095 1570, USA
Science 311:531-5. 2006..Here we show that the sterile alpha motif domain of rat Shank3/ProSAP2, a master scaffolding protein located deep within the PSD, can form large sheets composed of helical fibers ..
- Progressive accumulation of amyloid-beta oligomers in Alzheimer's disease and in amyloid precursor protein transgenic mice is accompanied by selective alterations in synaptic scaffold proteinsEmiley Pham
Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093 0624, USA
FEBS J 277:3051-67. 2010..This was accompanied by a decrease in the levels of the postsynaptic proteins Shank1 and Shank3 in patients with Alzheimer's disease and in the brains of amyloid precursor protein transgenic mice...
- Linkage of the actin cytoskeleton to the postsynaptic density via direct interactions of Abp1 with the ProSAP/Shank familyBritta Qualmann
Department of Neurochemistry and Molecular Biology, Leibniz Institute for Neurobiology, D 39118 Magdeburg, Germany
J Neurosci 24:2481-95. 2004..that is conserved within the C-terminal parts of ProSAP1(proline-rich synapse-associated protein 1)/Shank2 and ProSAP2/Shank3...
- Differential expression and dendritic transcript localization of Shank family members: identification of a dendritic targeting element in the 3' untranslated region of Shank1 mRNATobias M Bockers
Institut für Anatomie Westfälishe Wilhelms Universität Münster, Germany
Mol Cell Neurosci 26:182-90. 2004..Shank1/SSTRIP and Shank2/ProSAP1 mRNAs are widely expressed early in postnatal brain development whereas Shank3/ProSAP2 expression increases during postnatal development especially in the cerebellum and thalamus...
- Identification of novel phosphorylation sites on postsynaptic density proteinsH Jaffe
Protein and Peptide Sequencing Facility, NIH NINDS, Bethesda, MD, USA
Biochem Biophys Res Commun 321:210-8. 2004..in vitro phosphorylation in the presence of Ca2+/calmodulin included S-1058 on SynGAP and S-1662 and S-1668 on Shank3. Other phosphorylated residues were identified in control samples, presumably reflecting phosphorylation in the ..
- Disruption of glutamate receptors at Shank-postsynaptic platform in Alzheimer's diseaseYuesong Gong
Department of Neurology, Drexel University College of Medicine, 245 N 15th Street, Philadelphia, PA 19102, USA
Brain Res 1292:191-8. 2009..The level of Shank2 was increased, whereas the protein level of Shank3 was decreased...
- The neuronal scaffold protein Shank3 mediates signaling and biological function of the receptor tyrosine kinase Ret in epithelial cellsGunnar Schuetz
MaxDelbrück Center for Molecular Medicine, Berlin, Germany
J Cell Biol 167:945-52. 2004..The PDZ domain-containing Shank3 protein was found to represent a novel interaction partner of the receptor tyrosine kinase Ret, which binds ..
- Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neuronsGautier Roussignol
Institut de Genomique Fonctionnelle, Unite Mixte de Recherche 5203, 34000 Montpellier, France
J Neurosci 25:3560-70. 2005..Here, we report that knock-down of Shank3/prolinerich synapse-associated protein-2 by RNA interference reduces spine density in hippocampal neurons...
- Dose-dependent effect of risperidone treatment in a case of 22q13.3 deletion syndromeAugusto Pasini
Department of Neuroscience, University of Rome Tor Vergata, Roma, Italy
Brain Dev 32:425-7. 2010We describe a 18-year-old female with 22q13.3 deletion syndrome characterized by an alteration of SHANK3/PROSAP2 and severe mental retardation, intense psychomotor agitation and aggressive behaviour...
- A systematic test of the relation of ASD heterogeneity to synaptic functionTHOMAS C contact SUDHOF; Fiscal Year: 2010..Several independent mutations in genes encoding synaptic proteins, such as neurexin-1, neuroligins, and SHANK3, suggested that ASDs may generally involve an impairment of synaptic communication between neurons...
- Elucidating the Roles of SHANK3 and FXR in the Autism InteractomeHuda Y Zoghbi; Fiscal Year: 2010..by this interactome is the finding that there are three "hub" proteins that are centers for interaction: FXR1, SHANK3, and TSC1...
- TrkB Agonist(s), a Potential Therapy for Autism Spectrum DisordersYi Eve Sun; Fiscal Year: 2010..Mutations of genes such as neurexin 1 (NRXN1), neuroligin3 and 4 (NLGN3/4), SHANK3, PTEN have been associated with autism...
- Exploring the Neuronal Phenotype of Autism Spectrum Disorders Using Induced PluriJOACHIM F contact HALLMAYER; Fiscal Year: 2010..cells from human fibroblasts harvested from healthy controls and ASD patients with mutations in the CACNA1C and SHANK3 gene, mutations known to affect neuronal development, and optimize and characterize the differentiation of iPS ..
- The Contribution of CpG Island Methylation to the Tissue-Specific Expression of SAlika Maunakea; Fiscal Year: 2007..However, in a preliminary analysis of four different tissue/cell types, we identified a gene, SHANK3, whose CpG island methylation and expression patterns appear tissue type- specific and evolutionarily conserved...
- 3/5-Elucidating the Genetic Architecture of Autism by Deep Genomic SequencingJoseph D Buxbaum; Fiscal Year: 2010....
- RAB5 AND APP PROCESSING AS RELATED TO AGINGJoseph Buxbaum; Fiscal Year: 2002....
- FUNCTION OF THE FE65/APP COMPLEXJoseph Buxbaum; Fiscal Year: 2007..Specific Aim 2. To discover genes whose transcription is regulated by the FE65/gamma-CTF complex. Specific Aim 3. To elucidate signals that regulate the formation and nuclear translocation of the FE65/gamma-CTF complex. ..
- PRESENILINS, APOPTOSIS AND AMYLOID BETA PROTEINJoseph Buxbaum; Fiscal Year: 2003..abstract_text> ..
- MAP Kinases ERK1/2 in Synaptic Plasticity in BrainRAYMOND KELLEHER; Fiscal Year: 2003..no abstract provided..
- Molecular Targets of A-beta-Induced Synaptic DysfunctionMichael Ehlers; Fiscal Year: 2008..As such, the proposed research holds promise for the development of new therapeutic approaches for AD-associated memory loss and cognitive deficit. ..
- The Endocytic Machinery of Dendritic SpinesMichael D Ehlers; Fiscal Year: 2010....
- Synaptic Targeting of NMDA ReceptorsMichael Ehlers; Fiscal Year: 2009..Moreover, because NMDA receptors participate in the pathogenesis of a wide range of neurologic disorders, psychiatric disease, and states of addiction, these studies hold promise for the development of novel therapeutic strategies. ..
- Genomic Imbalances in AutismSusan Christian; Fiscal Year: 2008..These data will be valuable in both identifying polymorphic variants in normal human control samples and also identifying chromosomal dosage imbalances that are associated with autism. ..