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SH3 and Multiple Ankyrin Repeat Domains Protein 3

Known as: ProSAP2, Proline-Rich Synapse-Associated Protein 2, Shank3 
SH3 and Multiple Ankyrin Repeat Domains Protein 3 (1741 aa, 186 kDa) is a cell communication protein that is encoded by the human SHANK3 gene and… Expand
National Institutes of Health

Related topics

Related topics

8 relations
Ankyrin RepeatCoiled-Coil DomainProline-Rich DomainSH3 Domain
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
SHANK proteins: roles at the synapse and in autism spectrum disorder
Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the… Expand
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Highly Cited
2013
Highly Cited
2013
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
Phelan–McDermid syndrome (PMDS) is a complex neurodevelopmental disorder characterized by global developmental delay, severely… Expand
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Highly Cited
2013
Highly Cited
2013
Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay
BackgroundHaploinsufficiency of SHANK3, due to either hemizygous gene deletion (termed 22q13 deletion syndrome or Phelan-McDermid… Expand
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Highly Cited
2012
Highly Cited
2012
High-Throughput Sequencing of mGluR Signaling Pathway Genes Reveals Enrichment of Rare Variants in Autism
Identification of common molecular pathways affected by genetic variation in autism is important for understanding disease… Expand
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Highly Cited
2011
Highly Cited
2011
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3.
SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density (PSD) of excitatory synapses. Small microdeletions… Expand
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Highly Cited
2008
Highly Cited
2008
Heterogeneous dysregulation of microRNAs across the autism spectrum
AbstractmicroRNAs (miRNAs) are ~21 nt transcripts capable of regulating the expression of many mRNAs and are abundant in the… Expand
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Highly Cited
2008
Highly Cited
2008
Kalirin-7 Is an Essential Component of both Shaft and Spine Excitatory Synapses in Hippocampal Interneurons
Kalirin, a multifunctional Rho GDP/GTP exchange factor, plays a vital role in cytoskeletal organization, affecting process… Expand
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Highly Cited
2007
Highly Cited
2007
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins… Expand
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Highly Cited
2007
Highly Cited
2007
Contribution of SHANK3 mutations to autism spectrum disorder.
Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum… Expand
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Highly Cited
2005
Highly Cited
2005
Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3
CpG islands are present in one-half of all human and mouse genes and typically overlap with promoters or exons. We developed a… Expand
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