Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
CM Durand, C Betancur, TM Boeckers, J Bockmann…�- Nature�…, 2007 - nature.com
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 is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism�…
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2
MJ Schmeisser, E Ey, S Wegener, J Bockmann…�- Nature, 2012 - nature.com
Autism spectrum disorders comprise a range of neurodevelopmental disorders
characterized by deficits in social interaction and communication, and by repetitive�…
characterized by deficits in social interaction and communication, and by repetitive�…
Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology
Mutations in the postsynaptic scaffolding gene SHANK2 have recently been identified in
individuals with autism spectrum disorder (ASD) and intellectual disability. However, the�…
individuals with autism spectrum disorder (ASD) and intellectual disability. However, the�…
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
S Berkel, CR Marshall, B Weiss, J Howe, R Roeth…�- Nature�…, 2010 - nature.com
Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic
scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and�…
scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and�…
Autism-associated mutations in ProSAP2/Shank3 impair synaptic transmission and neurexin–neuroligin-mediated transsynaptic signaling
MH Arons, CJ Thynne, AM Grabrucker, D Li…�- Journal of�…, 2012 - Soc Neuroscience
Mutations in several postsynaptic proteins have recently been implicated in the molecular
pathogenesis of autism and autism spectrum disorders (ASDs), including Neuroligins�…
pathogenesis of autism and autism spectrum disorders (ASDs), including Neuroligins�…
[HTML][HTML] SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism
CM Durand, J Perroy, F Loll, D Perrais, L Fagni…�- Molecular�…, 2012 - nature.com
Genetic mutations of SHANK3 have been reported in patients with intellectual disability,
autism spectrum disorder (ASD) and schizophrenia. At the synapse, Shank3/ProSAP2 is a�…
autism spectrum disorder (ASD) and schizophrenia. At the synapse, Shank3/ProSAP2 is a�…
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
Autism spectrum disorder (ASD) is a group of conditions characterized by impaired social
interaction and communication, and restricted and repetitive behaviours. ASD is a highly�…
interaction and communication, and restricted and repetitive behaviours. ASD is a highly�…
SHANK proteins: roles at the synapse and in autism spectrum disorder
P Monteiro, G Feng�- Nature Reviews Neuroscience, 2017 - nature.com
Several large-scale genomic studies have supported an association between cases of
autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat�…
autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat�…
Autism-associated insertion mutation (InsG) of Shank3 exon 21 causes impaired synaptic transmission and behavioral deficits
HE Speed, M Kouser, Z Xuan, JM Reimers…�- Journal of�…, 2015 - Soc Neuroscience
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�…
synapses in which mutations and deletions have been implicated in patients with idiopathic�…
Adult restoration of Shank3 expression rescues selective autistic-like phenotypes
Because autism spectrum disorders are neurodevelopmental disorders and patients
typically display symptoms before the age of three, one of the key questions in autism�…
typically display symptoms before the age of three, one of the key questions in autism�…