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
Publications142 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...
- 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 ..
- 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 ..
- 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...
- 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...
- 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...
- 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 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...
- 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...
- 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 ..
- 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...
- 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 ..
- 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)...
- 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...
- 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...
- 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...
- 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.
- 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...
- 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...
- 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...
- 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 ..
- 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...
- 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 ..
- 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)...
- 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)...
- 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...
- 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...
- 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 ..
- Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communicationOzlem Bozdagi
Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, NY 10029, USA
Mol Autism 1:15. 2010b>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 ..
- 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...
- 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...
- 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) ..
- 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,..
- 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...
- 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...
- 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...
- [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)...
- 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, ..
- 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 ..
- A double hit implicates DIAPH3 as an autism risk geneJ 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...
- 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 (..
- 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...
- Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorderYuka 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...
- Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2Michael 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...
- Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletionKimberly 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...
- Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patientsH 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 ..
- A blueprint for research on Shankopathies: a view from research on autism spectrum disorderSalvatore 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...
- HITS-CLIP and integrative modeling define the Rbfox splicing-regulatory network linked to brain development and autismSebastien 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...
- Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorderSergio 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...
- Behavioral and Neuroanatomical Phenotypes in Mouse Models of AutismJacob 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 ..
- Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or IDDaniela 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...
- Late-onset epileptic spasms in a patient with 22q13.3 deletion syndromeNobutsune 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...
- CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiencyMichael Bidinosti
Developmental Molecular Pathways, Novartis Institutes for BioMedical Research, Basel, Switzerland
Science 351:1199-203. 2016SH3 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)...
- Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neuronsFei Yi
Department of Molecular and Cellular Physiology, Stanford University School of Medicine, 265 Campus Drive, Stanford, CA 94305, USA
Science 352:aaf2669. 2016Heterozygous 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...
- Read-through transcripts in normal human lung parenchyma are down-regulated in lung adenocarcinomaGiulia 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...
- Uncovering quantitative protein interaction networks for mouse PDZ domains using protein microarraysMichael 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....
- 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...
- 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...
- Linkage and candidate gene studies of autism spectrum disorders in European populationsRichard 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...
- SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disordersCatalina 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% ..
- Rat cortex and hippocampus-derived soluble factors for the induction of adipose-derived mesenchymal stem cells into neuron-like cellsChao 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...
- Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorderA 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...
- Nanoscale segregation of actin nucleation and elongation factors determines dendritic spine protrusionAnaël 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...
- Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficitJiseok Lee
Department of Biological Sciences, Korea Advanced Institute of Science and Technology Daejeon, South Korea
Front Cell Neurosci 9:94. 2015b>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...
- Translational neurobiology in Shank mutant mice--model systems for neuropsychiatric disordersMichael 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 ..
- Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reportsSylvie 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. 2015Phelan-Mc Dermid syndrome is a contiguous disorder resulting from 22q13.3 deletion implicating the SHANK3 gene...
- Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral DeficitsHaley E Speed
Departments of Neurology and Neurotherapeutics and
J Neurosci 35:9648-65. 2015SHANK3 (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 ..
- Cerebellar associative sensory learning defects in five mouse autism modelsALEXANDER 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 ..
- Novel Therapeutic Approach for Autism Spectrum Disorder: Focus on SHANK3Shigeo 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. 2015b>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...
- Hippocampal Transcriptomic and Proteomic Alterations in the BTBR Mouse Model of Autism Spectrum DisorderCaitlin 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...
- Shank3 is localized in axons and presynaptic specializations of developing hippocampal neurons and involved in the modulation of NMDA receptor levels at axon terminalsSonja Halbedl
Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany
J Neurochem 137:26-32. 2016Autism-related Shank1, Shank2, and Shank3 are major postsynaptic scaffold proteins of excitatory glutamatergic synapses...
- Adult restoration of Shank3 expression rescues selective autistic-like phenotypesYuan 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 ..
- Enlarged dendritic spines and pronounced neophobia in mice lacking the PSD protein RICH2Tasnuva 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.
- Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out miceC Vicidomini
CNR Neuroscience Institute, Milan, Italy
Mol Psychiatry . 2016SHANK3 (also called PROSAP2) genetic haploinsufficiency is thought to be the major cause of neuropsychiatric symptoms in Phelan-McDermid syndrome (PMS)...
- Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and ScaffoldingEleonora 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...
- Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDsLauren 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 ..
- Activity and circadian rhythm influence synaptic Shank3 protein levels in miceTasnuva 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 ..
- Sensitivity to isoflurane anesthesia increases in autism spectrum disorder Shank3+/∆c mutant mouse modelChangsheng 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)...
- Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient ratHala Harony-Nicolas
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, United States
elife 6:. 2017Mutations in the synaptic gene SHANK3 lead to a neurodevelopmental disorder known as Phelan-McDermid syndrome (PMS)...
- 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 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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 ..
- 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...
- 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...
- 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)...
- 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...
- 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...
- Dissecting the role of one neuronal RhoGEF amongst many: the Kalirin-7 null mouseRichard 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...
- 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...
- 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...
- Yong hui Jiang; Fiscal Year: 2016..Recent genetic evidence implicates the SHANK3 gene in ASD...
- 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 ..
- Regulation of activity-dependent ProSAp2 synaptic dynamicsMAGALI HOLT ROWAN; Fiscal Year: 2011b>ProSAP2 is a multidomain scaffold protein located in the post-synaptic density (PSD) of excitatory synapses...
- 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...
- 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...
- 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...
- 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...
- Identification of Candidate Genes at the Synapse in Autism Spectrum DisordersABHA 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...
- Exploring the Neuronal Phenotype of Autism Spectrum Disorders Using Induced PluriJoachim 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 ..
- 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 ..
- Synaptic Deficits of iPS Cell-Derived Neurons from Patients with AutismRong 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...
- 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...
- 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....
- 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> ..
- RAB5 AND APP PROCESSING AS RELATED TO AGINGJoseph Buxbaum; Fiscal Year: 2002....
- MAP Kinases ERK1/2 in Synaptic Plasticity in BrainRAYMOND KELLEHER; Fiscal Year: 2003..no abstract provided..
- 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. ..
- 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. ..
- 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. ..