SHANK3

Summary

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
Species: human

Top Publications

  1. ncbi The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42
    Michaela Soltau
    Institut fur Zellbiochemie und klinische Neurobiologie, Universitatskrankenhaus Eppendorf, Hamburg, Germany
    Mol Cell Neurosci 21:575-83. 2002
  2. ncbi 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-markers
    Floris 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
  3. pmc Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
    M C Bonaglia
    J Med Genet 43:822-8. 2006
  4. ncbi Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density
    T M Boeckers
    Leibniz Institute for Neurobiology, 39118 Magdeburg, Germany
    J Neurosci 19:6506-18. 1999
  5. ncbi Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family
    T M Boeckers
    Department of Neurochemistry and Molecular Biology, Leibniz Institute for Neurobiology, Magdeburg, 39118, Germany
    Biochem Biophys Res Commun 264:247-52. 1999
  6. ncbi Synapse structure: glutamate receptors connected by the shanks
    M D Ehlers
    Department of Neurobiology, Duke University Medical Center, Durham, 27710, USA
    Curr Biol 9:R848-50. 1999
  7. ncbi The Shank family of scaffold proteins
    M 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
  8. pmc Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
    M C Bonaglia
    IRCCS E Medea, 23842 Bosisio Parini, Lecco, Italy
    Am J Hum Genet 69:261-8. 2001
  9. ncbi ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease
    Tobias M Boeckers
    AG Molecular Neurobiology, Institute of Anatomy, UKM, Westfaelische Wilhelms University, Munster, Germany
    J Neurochem 81:903-10. 2002
  10. ncbi The Shank family of postsynaptic density proteins interacts with and promotes synaptic accumulation of the beta PIX guanine nucleotide exchange factor for Rac1 and Cdc42
    Eunhye Park
    Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon 305 701, Korea
    J Biol Chem 278:19220-9. 2003

Research Grants

  1. A systematic test of the relation of ASD heterogeneity to synaptic function
    THOMAS C contact SUDHOF; Fiscal Year: 2010
  2. Elucidating the Roles of SHANK3 and FXR in the Autism Interactome
    Huda Y Zoghbi; Fiscal Year: 2010
  3. Dissecting the role of one neuronal RhoGEF amongst many: the Kalirin-7 null mouse
    Richard E Mains; Fiscal Year: 2012
  4. TrkB Agonist(s), a Potential Therapy for Autism Spectrum Disorders
    Yi Eve Sun; Fiscal Year: 2010
  5. Ruoqi Gao; Fiscal Year: 2016
  6. Yong hui Jiang; Fiscal Year: 2016
  7. Exploring the Neuronal Phenotype of Autism Spectrum Disorders Using Induced Pluri
    JOACHIM F contact HALLMAYER; Fiscal Year: 2010
  8. Regulation of activity-dependent ProSAp2 synaptic dynamics
    MAGALI HOLT ROWAN; Fiscal Year: 2011
  9. Alexander Kolevzon; Fiscal Year: 2015
  10. Paul F Worley; Fiscal Year: 2016

Scientific Experts

Detail Information

Publications142 found, 100 shown here

  1. ncbi The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42
    Michaela 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...
  2. ncbi 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-markers
    Floris 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 ..
  3. pmc Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
    M 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...
  4. ncbi Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density
    T 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 ..
  5. ncbi Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family
    T 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 ..
  6. ncbi Synapse structure: glutamate receptors connected by the shanks
    M 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...
  7. ncbi The Shank family of scaffold proteins
    M 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...
  8. pmc Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
    M 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...
  9. ncbi ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease
    Tobias 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...
  10. ncbi The Shank family of postsynaptic density proteins interacts with and promotes synaptic accumulation of the beta PIX guanine nucleotide exchange factor for Rac1 and Cdc42
    Eunhye 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...
  11. pmc Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
    H 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...
  12. ncbi Molecular and phenotypic characterization of ring chromosome 22
    Aaron 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 ..
  13. pmc Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    Christelle M Durand
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    Nat Genet 39:25-7. 2007
    SHANK3 (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...
  14. ncbi DNA methylation regulates tissue-specific expression of Shank3
    Silvana Beri
    E Medea Scientific Institute, Bosisio Parini, LC, Italy
    J Neurochem 101:1380-91. 2007
    Tissue-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 ..
  15. pmc Contribution of SHANK3 mutations to autism spectrum disorder
    Rainald Moessner
    The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, M5G 1L7, Canada
    Am J Hum Genet 81:1289-97. 2007
    Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD)...
  16. pmc Deletion 22q13.3 syndrome
    Mary 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...
  17. doi Novel de novo SHANK3 mutation in autistic patients
    Julie 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...
  18. pmc Multiple rare variants in the etiology of autism spectrum disorders
    Joseph 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...
  19. doi Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3
    A 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.
  20. doi A synaptic trek to autism
    Thomas 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...
  21. pmc 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH
    S 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...
  22. pmc De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
    Julie 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...
  23. pmc Conserved role of intragenic DNA methylation in regulating alternative promoters
    Alika 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 ..
  24. pmc Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability
    Fadi 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...
  25. pmc SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism
    C 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 ..
  26. doi SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
    Aleksandr 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)...
  27. ncbi Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development
    S Lim
    Department of Pharmacology, Pusan National University, Kumjeong Ku, Pusan 609 735, Korea
    J Biol Chem 274:29510-8. 1999
    Shank1, Shank2, and Shank3 constitute a family of proteins that may function as molecular scaffolds in the postsynaptic density (PSD)...
  28. ncbi Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain Shank protein family interact with the cytoskeletal protein alpha-fodrin
    T 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...
  29. ncbi Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3
    Tsui 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...
  30. doi Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities
    Alexander 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 ..
  31. pmc Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
    Ozlem Bozdagi
    Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Autism 1:15. 2010
    b>SHANK3 is a protein in the core of the postsynaptic density (PSD) and has a critical role in recruiting many key functional elements to the PSD and to the synapse, including components of α-amino-3-hydroxyl-5-methyl-4-isoxazole-propionic ..
  32. doi Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies
    Andreas 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...
  33. pmc Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection
    Nuala H Sykes
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Eur J Hum Genet 17:1347-53. 2009
    b>SHANK3 is located on chromosome 22q13.3 and encodes a scaffold protein that is found in excitatory synapses opposite the pre-synaptic active zone...
  34. pmc Characterization of an ankyrin repeat-containing Shank2 isoform (Shank2E) in liver epithelial cells
    Ryan 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) ..
  35. pmc Synaptic cross-talk between N-methyl-D-aspartate receptors and LAPSER1-beta-catenin at excitatory synapses
    Michael 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...
  36. pmc Structural variation of chromosomes in autism spectrum disorder
    Christian 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,..
  37. ncbi Expression of postsynaptic density proteins of the ProSAP/Shank family in the thymus
    Peter 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...
  38. ncbi Genetics of autism spectrum disorders
    Ravinesh 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...
  39. pmc A general screening strategy for peptide-based fluorogenic ligands: probes for dynamic studies of PDZ domain-mediated interactions
    Matthieu 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...
  40. ncbi [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)...
  41. ncbi Transsynaptic signaling by postsynaptic synapse-associated protein 97
    Maria 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, ..
  42. doi ProSAPiP2, a novel postsynaptic density protein that interacts with ProSAP2/Shank3
    Stefan 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 ..
  43. pmc A double hit implicates DIAPH3 as an autism risk gene
    J A S Vorstman
    Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Mol Psychiatry 16:442-51. 2011
    ..DIAPH3 is involved in cell migration, axon guidance and neuritogenesis, and is suggested to function downstream of SHANK3. Our findings strongly suggest DIAPH3 as a novel autism susceptibility gene...
  44. doi 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 system
    M Raab
    Department of Anatomy I, University of Erlangen Nuremberg, Krankenhausstrasse 9, 91054 Erlangen, Germany
    Neuroscience 171:421-33. 2010
    Proline-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 (..
  45. pmc Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2
    Joanna Giza
    Department of Biological Sciences, Hunter College, City University of New York, New York, New York 10065, USA
    J Neurosci 30:14805-16. 2010
    Deletion 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...
  46. pmc Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder
    Yuka Yasuda
    Department of Psychiatry, Osaka University Graduate School of Medicine, D3, 2 2, Yamadaoka, Suita, 565 0871, Osaka, Japan
    Mol Autism 2:9. 2011
    ..Rare mutations of some genes, such as neuroligin (NLGN) 3/4, neurexin (NRXN) 1, SHANK3, MeCP2 and NHE9, have been reported to be associated with ASD...
  47. doi Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2
    Michael J Schmeisser
    Institute for Anatomy and Cell Biology, Ulm University, 89081 Ulm, Germany
    Nature 486:256-60. 2012
    ..brain-region-specific upregulation of ionotropic glutamate receptors at the synapse and increased levels of ProSAP2/Shank3...
  48. pmc Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion
    Kimberly A Aldinger
    Committee on Neurobiology, The University of Chicago, Chicago, IL, USA
    Am J Med Genet A 161:131-6. 2013
    ..We also examined brain-imaging studies for a patient with an intragenic SHANK3 mutation...
  49. doi Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients
    H Hannachi
    Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Faraht Hached University Teaching Hospital, Sousse 4000, Tunisia
    Cytogenet Genome Res 140:1-11. 2013
    ..Haploinsufficiency of the SHANK3 gene, lying in the minimal critical region, is nowadays considered as responsible for most neurobehavioral ..
  50. doi A blueprint for research on Shankopathies: a view from research on autism spectrum disorder
    Salvatore Carbonetto
    Centre for Research in Neuroscience, Department of Neurology, McGill University Health Centre, Montreal, Quebec, H3G1A4, Canada
    Dev Neurobiol 74:85-112. 2014
    ..Phelan McDermid syndrome involves mutations in SHANK3 which encodes a protein that forms a scaffold for glutamate receptors at the synapse...
  51. pmc HITS-CLIP and integrative modeling define the Rbfox splicing-regulatory network linked to brain development and autism
    Sebastien M Weyn-Vanhentenryck
    Department of Systems Biology, Department of Biochemistry and Molecular Biophysics, Center for Motor Neuron Biology and Disease, Columbia University, New York, NY 10032, USA
    Cell Rep 6:1139-52. 2014
    ..particular interest are 111 events from 48 candidate autism-susceptibility genes, including syndromic autism genes Shank3, Cacna1c, and Tsc2...
  52. pmc Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder
    Sergio I Nemirovsky
    Plataforma de Bioinformática Argentina, Instituto de Calculo, Pabellon 2, Ciudad Universitaria, Facultad de Ciencias Exactas y Naturales, UBA, Buenos Aires, Argentina
    PLoS ONE 10:e0116358. 2015
    ..Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to ASD...
  53. pmc Behavioral and Neuroanatomical Phenotypes in Mouse Models of Autism
    Jacob Ellegood
    Mouse Imaging Centre MICe, Hospital for Sick Children, 25 Orde Street, Toronto, ON, M5T 3H7, Canada
    Neurotherapeutics 12:521-33. 2015
    ..2, 22q11.2, Cntnap2, Engrailed2, Fragile X, Integrinβ3, MET, Neurexin1a, Neuroligin3, Reelin, Rett, Shank3, Slc6a4, tuberous sclerosis, and Williams syndrome models, and inbred strains with strong autism-relevant ..
  54. pmc Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID
    Daniela M Cochoy
    Institute for Anatomy and Cell Biology, Ulm University, Albert Einstein Allee 11, D 89081 Ulm, Germany
    Mol Autism 6:23. 2015
    ..Although mutations in all three SHANK genes are associated with autism spectrum disorder (ASD), SHANK3 appears to be the major ASD gene with a prevalence of approximately 0...
  55. doi Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome
    Nobutsune Ishikawa
    Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan Epilepsy Center, Hiroshima University Hospital, Hiroshima, Japan Electronic address
    Brain Dev 38:109-12. 2016
    ..An array comparative genomic hybridization analysis revealed that a chromosomal deletion of this patient included SHANK3. To the best of our knowledge, this is the first confirmed case of late-onset ES occur in patients with 22q13...
  56. doi CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency
    Michael Bidinosti
    Developmental Molecular Pathways, Novartis Institutes for BioMedical Research, Basel, Switzerland
    Science 351:1199-203. 2016
    SH3 and multiple ankyrin repeat domains 3 (SHANK3) haploinsufficiency is causative for the neurological features of Phelan-McDermid syndrome (PMDS), including a high risk of autism spectrum disorder (ASD)...
  57. pmc Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
    Fei Yi
    Department of Molecular and Cellular Physiology, Stanford University School of Medicine, 265 Campus Drive, Stanford, CA 94305, USA
    Science 352:aaf2669. 2016
    Heterozygous SHANK3 mutations are associated with idiopathic autism and Phelan-McDermid syndrome. SHANK3 is a ubiquitously expressed scaffolding protein that is enriched in postsynaptic excitatory synapses...
  58. pmc Read-through transcripts in normal human lung parenchyma are down-regulated in lung adenocarcinoma
    Giulia Pintarelli
    Department of Predictive and Prevention Medicine, Fondazione IRCCS, Istituto Nazionale dei Tumori, Milan, Italy
    Oncotarget 7:27889-98. 2016
    ..ELAVL1-TIMM44, FAM162B-ZUFSP, IFNAR2-IL10RB, INMT-FAM188B, KIAA1841-C2orf74, NFATC3-PLA2G15, SIRPB1-SIRPD, and SHANK3-ACR...
  59. pmc Uncovering quantitative protein interaction networks for mouse PDZ domains using protein microarrays
    Michael A Stiffler
    Department of Chemistry and Chemical Biology, Harvard University, 12 Oxford Street, Cambridge, Massachusetts 02138, USA
    J Am Chem Soc 128:5913-22. 2006
    ....
  60. doi Efficient targeting of proteins to post-synaptic densities of excitatory synapses using a novel pSDTarget vector system
    Andreas 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...
  61. pmc Homer1a-dependent crosstalk between NMDA and metabotropic glutamate receptors in mouse neurons
    Federica 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...
  62. pmc Linkage and candidate gene studies of autism spectrum disorders in European populations
    Richard Holt
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK
    Eur J Hum Genet 18:1013-9. 2010
    ..008). Our results strengthen the case for a more detailed study of the role of RELN and GRIK2 in autism susceptibility, as well as identifying two new potential candidate genes, MKL2 and SND1...
  63. pmc SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
    Catalina Betancur
    INSERM U952, Paris, France
    Mol Autism 4:17. 2013
    ..33 or SHANK3 mutations, using gold-standard diagnostic assessments and showed that 84% met criteria for ASD, including 75% ..
  64. doi Rat cortex and hippocampus-derived soluble factors for the induction of adipose-derived mesenchymal stem cells into neuron-like cells
    Chao Han
    Regenerative Medicine Centre, First Affiliated Hospital of Dalian Medical University, Dalian, 116011, P R China Institute of Integrative Medicine, Dalian Medical University, Dalian, 116011, P R China
    Cell Biol Int 38:768-76. 2014
    ..A variety of synaptic marker proteins, including GAP43, SHANK2, SHANK3 and Bassoon body, were detected...
  65. doi Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder
    A Chaudhry
    Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
    Clin Genet 88:224-33. 2015
    ..genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, SHANK3 and PTCHD1...
  66. pmc Nanoscale segregation of actin nucleation and elongation factors determines dendritic spine protrusion
    Anaël Chazeau
    Interdisciplinary Institute for Neuroscience, University Bordeaux UMR 5297, Bordeaux, France CNRS, Interdisciplinary Institute for NeuroScience UMR 5297, Bordeaux, France
    EMBO J 33:2745-64. 2014
    ..Enhanced Rac1 activation and Shank3 over-expression, both associated with spine enlargement, induce delocalization of the WAVE complex from the PSD...
  67. pmc Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficit
    Jiseok Lee
    Department of Biological Sciences, Korea Advanced Institute of Science and Technology Daejeon, South Korea
    Front Cell Neurosci 9:94. 2015
    b>Shank3 is a postsynaptic scaffolding protein implicated in synapse development and autism spectrum disorders. The Shank3 gene is known to produce diverse splice variants whose functions have not been fully explored...
  68. doi Translational neurobiology in Shank mutant mice--model systems for neuropsychiatric disorders
    Michael J Schmeisser
    Institute for Anatomy and Cell Biology, Ulm University, Albert Einstein Allee 11, D 89081 Ulm, Germany Electronic address
    Ann Anat 200:115-7. 2015
    ..three core postsynaptic scaffold proteins of excitatory synapses in the mammalian brain: Shank1, Shank2 and Shank3. Since mutations in all three human SHANK genes are linked to neuropsychiatric disorders such as autism and ..
  69. pmc Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports
    Sylvie Serret
    Autism Resources Center, University Child and Adolescent Psychiatry Department, Children s Hospitals of Nice CHU Lenval, CoBTek EA7276 University of Nice Sophia Antipolis, Nice, France
    BMC Psychiatry 15:107. 2015
    Phelan-Mc Dermid syndrome is a contiguous disorder resulting from 22q13.3 deletion implicating the SHANK3 gene...
  70. pmc Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits
    Haley E Speed
    Departments of Neurology and Neurotherapeutics and
    J Neurosci 35:9648-65. 2015
    SHANK3 (also known as PROSAP2) is a postsynaptic scaffolding protein at excitatory synapses in which mutations and deletions have been implicated in patients with idiopathic autism, Phelan-McDermid (aka 22q13 microdeletion) syndrome, and ..
  71. pmc Cerebellar associative sensory learning defects in five mouse autism models
    ALEXANDER D KLOTH
    Department of Molecular Biology and Princeton Neuroscience Institute, Princeton University, Princeton, United States
    elife 4:e06085. 2015
    ..Using five autism-related mouse models, Shank3+/ΔC, Mecp2(R308/Y), Cntnap2-/-, L7-Tsc1 (L7/Pcp2(Cre)::Tsc1(flox/+)), and patDp(15q11-13)/+, we report specific ..
  72. pmc Novel Therapeutic Approach for Autism Spectrum Disorder: Focus on SHANK3
    Shigeo Uchino
    Department of Neurobiology, Faculty of Biosciences, School of Science and Engineering, Teikyo University, 1 1 Toyosatodai, Utsunomiya, Tochigi 320 8551, Japan
    Curr Neuropharmacol 13:786-92. 2015
    b>SHANK3 is a synaptic scaffolding protein and plays an important role in neuronal development. SHANK3 interacts with various synaptic molecules, including post-synaptic density-95 (PSD-95), homer and GluR1 AMPA receptor...
  73. pmc Hippocampal Transcriptomic and Proteomic Alterations in the BTBR Mouse Model of Autism Spectrum Disorder
    Caitlin M Daimon
    Metabolism Unit, National Institute on Aging, National Institutes of Health Baltimore, MD, USA
    Front Physiol 6:324. 2015
    ..proteins to be significantly altered in BTBR mice compared to C57BL/6J (B6) control mice controls such as BDNF, Shank3, and ERK1, which are highly relevant to prior investigations of ASD...
  74. doi Shank3 is localized in axons and presynaptic specializations of developing hippocampal neurons and involved in the modulation of NMDA receptor levels at axon terminals
    Sonja Halbedl
    Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany
    J Neurochem 137:26-32. 2016
    Autism-related Shank1, Shank2, and Shank3 are major postsynaptic scaffold proteins of excitatory glutamatergic synapses...
  75. pmc Adult restoration of Shank3 expression rescues selective autistic-like phenotypes
    Yuan Mei
    McGovern Institute for Brain Research, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
    Nature 530:481-4. 2016
    ..Here we investigate the developmental requirement of Shank3 in mice, a prominent monogenic autism gene that is estimated to contribute to approximately 1% of all autism ..
  76. pmc Enlarged dendritic spines and pronounced neophobia in mice lacking the PSD protein RICH2
    Tasnuva Sarowar
    WG Molecular Analysis of Synaptopathies, Neurology Department, Ulm University, Albert Einstein Allee 11, D 89081, Ulm, Germany
    Mol Brain 9:28. 2016
    ..Rho-GAP interacting CIP4 homologue2/RICH2 is a Rho-GAP protein regulating small GTPases and was identified as an interaction partner of the scaffolding protein SHANK3 at post-synaptic densities.
  77. pmc Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice
    C Vicidomini
    CNR Neuroscience Institute, Milan, Italy
    Mol Psychiatry . 2016
    SHANK3 (also called PROSAP2) genetic haploinsufficiency is thought to be the major cause of neuropsychiatric symptoms in Phelan-McDermid syndrome (PMS)...
  78. pmc Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding
    Eleonora Napoli
    Department of Molecular Biosciences, School of Veterinary Medicine Davis, CA, USA
    Front Neurosci 10:159. 2016
    ..and expression of the Zn-dependent synaptic scaffolding protein SH3 and multiple ankyrin repeat domains 3 (Shank3) in a knock-in (KI) premutation mouse model with 180 CGG repeats...
  79. doi Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs
    Lauren L Orefice
    Department of Neurobiology, Howard Hughes Medical Institute, Harvard Medical School, 220 Longwood Avenue, Boston, MA 02115, USA
    Cell 166:299-313. 2016
    ..We report that mice harboring mutations in Mecp2, Gabrb3, Shank3, and Fmr1 genes associated with ASDs in humans exhibit altered tactile discrimination and hypersensitivity to ..
  80. doi Activity and circadian rhythm influence synaptic Shank3 protein levels in mice
    Tasnuva Sarowar
    WG Molecular Analysis of Synaptopathies, Department of Neurology, Neurocenter of Ulm University, Ulm, Germany
    J Neurochem 138:887-95. 2016
    ..An imbalance in Shank3 protein levels has been associated with a variety of neuropsychological and neurodegenerative disorders including ..
  81. doi Sensitivity to isoflurane anesthesia increases in autism spectrum disorder Shank3+/∆c mutant mouse model
    Changsheng Li
    Department of Anesthesiology, Affiliated Anti cancer Hospital of Zhengzhou University, Zhengzhou, Henan Province 450008, China Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Neurotoxicol Teratol . 2016
    ..A genetic mouse model of one particular ASD, Phelan McDermid Syndrome, has been developed that has a Shank3 haplotype truncation (Shank3+/Δc)...
  82. pmc Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat
    Hala Harony-Nicolas
    Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, United States
    elife 6:. 2017
    Mutations in the synaptic gene SHANK3 lead to a neurodevelopmental disorder known as Phelan-McDermid syndrome (PMS)...
  83. ncbi ProSAP/Shank postsynaptic density proteins interact with insulin receptor tyrosine kinase substrate IRSp53
    J 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...
  84. pmc SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties
    Kihoon 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. 2013
    Mutations 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...
  85. pmc Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission
    Mehreen 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. 2013
    The Shank3 gene encodes a scaffolding protein that anchors multiple elements of the postsynaptic density at the synapse...
  86. ncbi Postsynaptic shank antagonizes dendrite branching induced by the leucine-rich repeat protein Densin-180
    Arne 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...
  87. doi Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps
    Aleksander Jamsheer
    Center for Medical Genetics, Poznan, Poland
    J Appl Genet 49:397-405. 2008
    We 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)...
  88. pmc Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism
    M Ali Bangash
    Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Cell 145:758-72. 2011
    We have created a mouse genetic model that mimics a human mutation of Shank3 that deletes the C terminus and is associated with autism...
  89. pmc SHANK1 Deletions in Males with Autism Spectrum Disorder
    Daisuke 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...
  90. doi SHANK3 as an autism spectrum disorder-associated gene
    Shigeo Uchino
    Department of Neurochemistry, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Brain Dev 35:106-10. 2013
    b>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...
  91. pmc Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
    Luigi 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)...
  92. doi Heterozygous loss of NF2 is an early molecular alteration in well-differentiated papillary mesothelioma of the peritoneum
    Hiroshi 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...
  93. pmc Genetic copy number variation and general cognitive ability
    Andrew 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...
  94. pmc Altered social behavior and neuronal development in mice lacking the Uba6-Use1 ubiquitin transfer system
    Peter 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 ..
  95. pmc High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism
    Raymond 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...
  96. pmc High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability
    Xiaohong 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...
  97. ncbi FISH-mapping of a 100-kb terminal 22q13 deletion
    Britt 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...
  98. ncbi Interaction of G-protein-coupled receptors with synaptic scaffolding proteins
    H 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)...
  99. ncbi Linkage of the actin cytoskeleton to the postsynaptic density via direct interactions of Abp1 with the ProSAP/Shank family
    Britta 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...

Research Grants27

  1. A systematic test of the relation of ASD heterogeneity to synaptic function
    THOMAS 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...
  2. Elucidating the Roles of SHANK3 and FXR in the Autism Interactome
    Huda 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...
  3. Dissecting the role of one neuronal RhoGEF amongst many: the Kalirin-7 null mouse
    Richard E Mains; Fiscal Year: 2012
    ..The role of Kal7 in spine formation in response to proteins such as Shank3, GluR2 and Neuroligin-1 will be assessed...
  4. TrkB Agonist(s), a Potential Therapy for Autism Spectrum Disorders
    Yi 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...
  5. Ruoqi Gao; Fiscal Year: 2016
    ..Preliminary data from our lab show that Epac2 is in a complex with two post- synaptic scaffolding proteins, Shank3 and PSD95...
  6. Yong hui Jiang; Fiscal Year: 2016
    ..Recent genetic evidence implicates the SHANK3 gene in ASD...
  7. Exploring the Neuronal Phenotype of Autism Spectrum Disorders Using Induced Pluri
    JOACHIM 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 ..
  8. Regulation of activity-dependent ProSAp2 synaptic dynamics
    MAGALI HOLT ROWAN; Fiscal Year: 2011
    b>ProSAP2 is a multidomain scaffold protein located in the post-synaptic density (PSD) of excitatory synapses...
  9. Alexander Kolevzon; Fiscal Year: 2015
    ..spectrum disorders (ASD) can now be conceived of as having multiple distinct genetic risk genes and one example is SHANK3 deficiency, characterized by global developmental delay, motor skills deficits, delayed or absent speech, and ASD...
  10. Paul F Worley; Fiscal Year: 2016
    ..provided by applicant): This is a competitive renewal of 5RO1NS070301-02, entitled "Dynamic Regulation of Shank3 and Autism Spectrum Disorders", which was awarded as an ARRA grant beginning 09/30/2009...
  11. Joseph D Buxbaum; Fiscal Year: 2015
    ..our group is to identify therapeutic targets in autism spectrum disorders (ASDs) and this proposal will focus on SHANK3 where it has been shown that deletions and mutations lead to ASDs...
  12. Guoping Feng; Fiscal Year: 2016
    ..One of the most promising ASD candidate genes is Shank3. Shank family proteins (Shank1-3) directly bind SAPAP to form the PSD95/SAPAP/Shank complex...
  13. Identification of Candidate Genes at the Synapse in Autism Spectrum Disorders
    ABHA RANI GUPTA; Fiscal Year: 2013
    ..It is an intriguing finding given that a number of candidate genes for ASD, such as the NLGNs, NRXN1, and SHANK3, are converging at the neural synapse, indicating that the synapse is a site of damage...
  14. Exploring the Neuronal Phenotype of Autism Spectrum Disorders Using Induced Pluri
    Joachim F Hallmayer; Fiscal Year: 2013
    ..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 ..
  15. MICHAEL FREDERICK WELLS; Fiscal Year: 2014
    ..b>Shank3 is a scaffolding protein of the post-synaptic density that is the only member of the Shank family of proteins to ..
  16. Synaptic Deficits of iPS Cell-Derived Neurons from Patients with Autism
    Rong Mao; Fiscal Year: 2011
    ..Specifically, I will study iPS cell-derived neurons from patients with point mutations or deletions in SHANK3. This gene has a key role in calcium channel function and synapse formation...
  17. Anthony Wing Sang Chan; Fiscal Year: 2014
    ..on exciting new genetic targeting technologies as well as genome-wide association studies, which have pinpointed SHANK3 as a leading disease risk factor prompting a new era in ASD research...
  18. The Contribution of CpG Island Methylation to the Tissue-Specific Expression of S
    Alika 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...
  19. 3/5-Elucidating the Genetic Architecture of Autism by Deep Genomic Sequencing
    Joseph D Buxbaum; Fiscal Year: 2010
    ....
  20. FUNCTION OF THE FE65/APP COMPLEX
    Joseph 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. ..
  21. PRESENILINS, APOPTOSIS AND AMYLOID BETA PROTEIN
    Joseph Buxbaum; Fiscal Year: 2003
    ..abstract_text> ..
  22. RAB5 AND APP PROCESSING AS RELATED TO AGING
    Joseph Buxbaum; Fiscal Year: 2002
    ....
  23. MAP Kinases ERK1/2 in Synaptic Plasticity in Brain
    RAYMOND KELLEHER; Fiscal Year: 2003
    ..no abstract provided..
  24. The Endocytic Machinery of Dendritic Spines
    Michael D Ehlers; Fiscal Year: 2010
    ....
  25. Synaptic Targeting of NMDA Receptors
    Michael 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. ..
  26. Molecular Targets of A-beta-Induced Synaptic Dysfunction
    Michael 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. ..
  27. Genomic Imbalances in Autism
    Susan 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. ..