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�…

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�…

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

S Berkel, W Tang, M Trevino, M Vogt…�- Human molecular�…, 2012 - academic.oup.com
Mutations in the postsynaptic scaffolding gene SHANK2 have recently been identified in
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�…

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�…

[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�…

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

H Won, HR Lee, HY Gee, W Mah, JI Kim, J Lee, S Ha…�- Nature, 2012 - nature.com
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�…

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-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�…

Adult restoration of Shank3 expression rescues selective autistic-like phenotypes

Y Mei, P Monteiro, Y Zhou, JA Kim, X Gao, Z Fu…�- Nature, 2016 - nature.com
Because autism spectrum disorders are neurodevelopmental disorders and patients
typically display symptoms before the age of three, one of the key questions in autism�…