• Publications
  • Influence
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
TLDR
It is reported that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders.
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
TLDR
It is concluded that haploinsufficiency of TBK1 causes ALS and fronto-temporal dementia.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
TLDR
Mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment and the clinical relevance of these genes remains to be ascertained.
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
TLDR
The identification of a novel 421 kb de novo SHANK2 deletion in a patient with autism strengthens the role of synaptic gene dysfunction in ASD but also highlights the presence of putative modifier genes, in keeping with the “multiple hit model” for ASD.
The postsynaptic density
  • T. Boeckers
  • Biology, Medicine
    Cell and Tissue Research
  • 25 July 2006
TLDR
The characterization of synapse/PSD proteins is especially important in the light of recent data suggesting that several mental disorders have their molecular defect at the synapse /PSD level.
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2
TLDR
It is shown that different abnormalities in synaptic glutamate receptor expression can cause alterations in social interactions and communication, and it is proposed that appropriate therapies for autism spectrum disorders are to be carefully matched to the underlying synaptopathic phenotype.
Functional Inactivation of a Fraction of Excitatory Synapses in Mice Deficient for the Active Zone Protein Bassoon
TLDR
It is shown that Bassoon is not essential for synapse formation but plays an essential role in the regulated neurotransmitter release from a subset of glutamatergic synapses.
Local Sharing as a Predominant Determinant of Synaptic Matrix Molecular Dynamics
TLDR
Findings indicate that the dynamics of key synaptic matrix molecules may be dominated by local protein exchange and redistribution, whereas protein synthesis and degradation serve to maintain and regulate the sizes of local, shared pools of these proteins.
Analysis of synaptic ultrastructure without fixative using high‐pressure freezing and tomography
TLDR
High‐pressure freezing (HPF) is used to capture within a few milliseconds structural features without aldehyde fixative, and thus to provide a snapshot of living synapses.
An Architectural Framework That May Lie at the Core of the Postsynaptic Density
TLDR
It is shown that the sterile alpha motif domain of rat Shank3/ProSAP2, a master scaffolding protein located deep within the PSD, can form large sheets composed of helical fibers stacked side by side.
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