Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams–Beuren Syndrome

Pérez Jurado, 2003, Williams-Beuren syndrome: a model of recurrent genomic mutation, Horm Res, 59, 106 Bayés, 2003, Mutational mechanisms of Williams-Beuren syndrome deletions, Am J Hum Genet, 73, 131, 10.1086/376565 Strømme, 2002, Prevalence estimation of Williams syndrome, J Child Neurol, 17, 269, 10.1177/088307380201700406 Pober, 2010, Williams-Beuren syndrome, N Engl J Med, 362, 239, 10.1056/NEJMra0903074 Morris, 2010, The behavioral phenotype of Williams syndrome: a recognizable pattern of neurodevelopment, Am J Med Genet C Semin Med Genet, 154C, 427, 10.1002/ajmg.c.30286 Chiang, 2007, 3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry, Neuroimage, 36, 1096, 10.1016/j.neuroimage.2007.04.024 Reiss, 2000, IV. Neuroanatomy of Williams syndrome: a high-resolution MRI study, J Cogn Neurosci, 12, 65, 10.1162/089892900561986 Reiss, 2004, An experiment of nature: brain anatomy parallels cognition and behavior in Williams syndrome, J Neurosci, 24, 5009, 10.1523/JNEUROSCI.5272-03.2004 Thompson, 2005, Abnormal cortical complexity and thickness profiles mapped in Williams syndrome, J Neurosci, 25, 4146, 10.1523/JNEUROSCI.0165-05.2005 Faria, 2012, Quantitative analysis of gray and white matter in Williams syndrome, Neuroreport, 23, 283, 10.1097/WNR.0b013e3283505b62 Meyer-Lindenberg, 2005, Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome, J Clin Invest, 115, 1888, 10.1172/JCI24892 Tomaiuolo, 2002, Morphology and morphometry of the corpus callosum in Williams syndrome: a T1-weighted MRI study, Neuroreport, 13, 2281, 10.1097/00001756-200212030-00022 Schmitt, 2001, Analysis of cerebral shape in Williams syndrome, Arch Neurol, 58, 283, 10.1001/archneur.58.2.283 Gaser, 2006, Increased local gyrification mapped in Williams syndrome, Neuroimage, 33, 46, 10.1016/j.neuroimage.2006.06.018 Van Essen, 2006, Symmetry of cortical folding abnormalities in Williams syndrome revealed by surface-based analyses, J Neurosci, 26, 5470, 10.1523/JNEUROSCI.4154-05.2006 Mobbs, 2007, Reduced parietal and visual cortical activation during global processing in Williams syndrome, Dev Med Child Neurol, 49, 433, 10.1111/j.1469-8749.2007.00433.x Jackowski, 2009, Brain abnormalities in Williams syndrome: a review of structural and functional magnetic resonance imaging findings, Eur J Paediatr Neurol, 13, 305, 10.1016/j.ejpn.2008.07.002 Binelli, 2014, Common and distinct neural correlates of facial emotion processing in social anxiety disorder and Williams syndrome: a systematic review and voxel-based meta-analysis of functional resonance imaging studies, Neuropsychologia, 10.1016/j.neuropsychologia.2014.08.027 Segura-Puimedon, 2014, Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder, Hum Mol Genet, 23, 6481, 10.1093/hmg/ddu368 Lucena, 2010, Essential role of the N-terminal region of TFII-I in viability and behavior, BMC Med Genet, 11, 61, 10.1186/1471-2350-11-61 Li, 2009, Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice, EMBO Mol Med, 1, 50, 10.1002/emmm.200900003 Zhao, 2005, Hippocampal and visuospatial learning defects in mice with a deletion of frizzled 9, a gene in the Williams syndrome deletion interval, Development, 132, 2917, 10.1242/dev.01871 van Hagen, 2007, Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome, Neurobiol Dis, 26, 112, 10.1016/j.nbd.2006.12.009 Capossela, 2012, Growth defects and impaired cognitive-behavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the Williams-Beuren syndrome critical region, Am J Pathol, 180, 1121, 10.1016/j.ajpath.2011.12.008 Dai, 2009, Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays, Am J Med Genet A, 149A, 302, 10.1002/ajmg.a.32652 Howald, 2006, Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions, J Med Genet, 43, 266, 10.1136/jmg.2005.034009 Järvinen-Pasley, 2008, Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior, Dev Psychopathol, 20, 1, 10.1017/S0954579408000011 Antonell, 2010, Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile, J Med Genet, 47, 312, 10.1136/jmg.2009.071712 Edelmann, 2007, An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism, J Med Genet, 44, 136, 10.1136/jmg.2006.044537 Sakurai, 2011, Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions, Autism Res, 4, 28, 10.1002/aur.169 Daya, 2008, Gene therapy using adeno-associated virus vectors, Clin Microbiol Rev, 21, 583, 10.1128/CMR.00008-08 Büning, 2008, Recent developments in adeno-associated virus vector technology, J Gene Med, 10, 717, 10.1002/jgm.1205 Niemeyer, 2009, Long-term correction of inhibitor-prone hemophilia B dogs treated with liver-directed AAV2-mediated factor IX gene therapy, Blood, 113, 797, 10.1182/blood-2008-10-181479 Jiang, 2006, Multiyear therapeutic benefit of AAV serotypes 2, 6, and 8 delivering factor VIII to hemophilia A mice and dogs, Blood, 108, 107, 10.1182/blood-2005-12-5115 Ernfors, 1994, Mice lacking brain-derived neurotrophic factor develop with sensory deficits, Nature, 368, 147, 10.1038/368147a0 Korte, 1995, Hippocampal long-term potentiation is impaired in mice lacking brain-derived neurotrophic factor, Proc Natl Acad Sci USA, 92, 8856, 10.1073/pnas.92.19.8856 Hall, 2000, Rapid and selective induction of BDNF expression in the hippocampus during contextual learning, Nat Neurosci, 3, 533, 10.1038/75698 Linnarsson, 1997, Learning deficit in BDNF mutant mice, Eur J Neurosci, 9, 2581, 10.1111/j.1460-9568.1997.tb01687.x Bramham, 2007, Dendritic mRNA: transport, translation and function, Nat Rev Neurosci, 8, 776, 10.1038/nrn2150 Santos, 2010, Regulation of local translation at the synapse by BDNF, Prog Neurobiol, 92, 505, 10.1016/j.pneurobio.2010.08.004 Kumar, 2005, Regulation of dendritic morphogenesis by Ras-PI3K-Akt-mTOR and Ras-MAPK signaling pathways, J Neurosci, 25, 11288, 10.1523/JNEUROSCI.2284-05.2005 Segura-Puimedon, 2013, TFII-I regulates target genes in the PI-3K and TGF-β signaling pathways through a novel DNA binding motif, Gene, 527, 529, 10.1016/j.gene.2013.06.050 Doyle, 2004, “Everybody in the world is my friend” hypersociability in young children with Williams syndrome, Am J Med Genet A, 124A, 263, 10.1002/ajmg.a.20416 Gagliardi, 2007, Evolution of neurologic features in Williams syndrome, Pediatr Neurol, 36, 301, 10.1016/j.pediatrneurol.2007.01.001 Thomas, 2009, Marble burying reflects a repetitive and perseverative behavior more than novelty-induced anxiety, Psychopharmacology (Berl), 204, 361, 10.1007/s00213-009-1466-y Takeuchi, 2002, Effect of YM992, a novel antidepressant with selective serotonin re-uptake inhibitory and 5-HT 2A receptor antagonistic activity, on a marble-burying behavior test as an obsessive-compulsive disorder model, Jpn J Pharmacol, 90, 197, 10.1254/jjp.90.197 Njung'e, 1991, Evaluation of marble-burying behavior as a model of anxiety, Pharmacol Biochem Behav, 38, 63, 10.1016/0091-3057(91)90590-X Deacon, 2005, Hippocampal lesions, species-typical behaviours and anxiety in mice, Behav Brain Res, 156, 241, 10.1016/j.bbr.2004.05.027 Deacon, 2006, Digging and marble burying in mice: simple methods for in vivo identification of biological impacts, Nat Protoc, 1, 122, 10.1038/nprot.2006.20 Meyer-Lindenberg, 2006, Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour, Nat Rev Neurosci, 7, 380, 10.1038/nrn1906 Sala, 2014, Dendritic spines: the locus of structural and functional plasticity, Physiol Rev, 94, 141, 10.1152/physrev.00012.2013 Duman, 2006, A neurotrophic model for stress-related mood disorders, Biol Psychiatry, 59, 1116, 10.1016/j.biopsych.2006.02.013 Monteggia, 2004, Essential role of brain-derived neurotrophic factor in adult hippocampal function, Proc Natl Acad Sci USA, 101, 10827, 10.1073/pnas.0402141101 Kapczinski, 2008, Brain-derived neurotrophic factor and neuroplasticity in bipolar disorder, Expert Rev Neurother, 8, 1101, 10.1586/14737175.8.7.1101 Sun, 2006, The ups and downs of BDNF in Rett syndrome, Neuron, 49, 321, 10.1016/j.neuron.2006.01.014 Tlili, 2012, BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients, Mol Neurobiol, 46, 297, 10.1007/s12035-012-8284-7 Bremner, 2000, Hippocampal volume reduction in major depression, Am J Psychiatry, 157, 115, 10.1176/ajp.157.1.115 Bremner, 2002, Neuroimaging studies in post-traumatic stress disorder, Curr Psychiatry Rep, 4, 254, 10.1007/s11920-996-0044-9 Sharma, 2010, Dysregulation of mTOR signaling in fragile X syndrome, J Neurosci, 30, 694, 10.1523/JNEUROSCI.3696-09.2010 Adamo, 2015, 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages, Nat Genet, 47, 132, 10.1038/ng.3169 Zincarelli, 2008, Analysis of AAV serotypes 1-9 mediated gene expression and tropism in mice after systemic injection, Mol Ther, 16, 1073, 10.1038/mt.2008.76 Fernandez, 2007, Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome, Nat Neurosci, 10, 411, 10.1038/nn1860 Feng, 2000, Imaging neuronal subsets in transgenic mice expressing multiple spectral variants of GFP, Neuron, 28, 41, 10.1016/S0896-6273(00)00084-2