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- Publications
- Influence
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
- C. Durand, C. Betancur, +20 authors T. Bourgeron
- Biology, Medicine
- Nature Genetics
- 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… Expand
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
- A. Freischmidt, T. Wieland, +37 authors Jochen H Weishaupt
- Biology, Medicine
- Nature Neuroscience
- 1 May 2015
Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of 252 familial ALS (fALS)… Expand
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
- C. Leblond, C. Nava, +57 authors T. Bourgeron
- Medicine, Biology
- PLoS genetics
- 1 September 2014
SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of… Expand
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2
- M. Schmeisser, E. Ey, +24 authors T. Boeckers
- Biology, Medicine
- Nature
- 14 June 2012
Autism spectrum disorders comprise a range of neurodevelopmental disorders characterized by deficits in social interaction and communication, and by repetitive behaviour. Mutations in synaptic… Expand
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
- C. Leblond, J. Heinrich, +57 authors T. Bourgeron
- Biology, Medicine
- PLoS genetics
- 1 February 2012
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in… Expand
The postsynaptic density
- T. Boeckers
- Biology, Medicine
- Cell and Tissue Research
- 25 July 2006
Glutamatergic synapses in the central nervous system are characterized by an electron-dense web underneath the postsynaptic membrane; this web is called the postsynaptic density (PSD). PSDs are… Expand
Functional Inactivation of a Fraction of Excitatory Synapses in Mice Deficient for the Active Zone Protein Bassoon
- W. Altrock, S. T. Dieck, +19 authors E. Gundelfinger
- Biology, Medicine
- Neuron
- 6 March 2003
Mutant mice lacking the central region of the presynaptic active zone protein Bassoon were generated to establish the role of this protein in the assembly and function of active zones as sites of… Expand
An Architectural Framework That May Lie at the Core of the Postsynaptic Density
- Marisa K. Baron, T. Boeckers, +6 authors J. U. Bowie
- Biology, Medicine
- Science
- 27 January 2006
The postsynaptic density (PSD) is a complex assembly of proteins associated with the postsynaptic membrane that organizes neurotransmitter receptors, signaling pathways, and regulatory elements… Expand
Importance of Shank3 Protein in Regulating Metabotropic Glutamate Receptor 5 (mGluR5) Expression and Signaling at Synapses*
- C. Verpelli, E. Dvoretskova, +9 authors C. Sala
- Biology, Medicine
- The Journal of Biological Chemistry
- 27 July 2011
Shank3/PROSAP2 gene mutations are associated with cognitive impairment ranging from mental retardation to autism. Shank3 is a large scaffold postsynaptic density protein implicated in dendritic… Expand
Brevican-Deficient Mice Display Impaired Hippocampal CA1 Long-Term Potentiation but Show No Obvious Deficits in Learning and Memory
- C. Brakebusch, C. Seidenbecher, +10 authors R. Fässler
- Biology, Medicine
- Molecular and Cellular Biology
- 1 November 2002
ABSTRACT Brevican is a brain-specific proteoglycan which is found in specialized extracellular matrix structures called perineuronal nets. Brevican increases the invasiveness of glioma cells in vivo… Expand