title: Therapeutic approaches for shankopathies.
abstract: Despite recent advances in understanding the molecular mechanisms of autism spectrum disorders (ASD), the current treatments for these disorders are mostly focused on behavioral and educational approaches. The considerable clinical and molecular heterogeneity of ASD present a significant challenge to the development of an effective treatment targeting underlying molecular defects. Deficiency of SHANK family genes causing ASD represent an exciting opportunity for developing molecular therapies because of strong genetic evidence for SHANK as causative genes in ASD and the availability of a panel of Shank mutant mouse models. In this article, we review the literature suggesting the potential for developing therapies based on molecular characteristics and discuss several exciting themes that are emerging from studying Shank mutant mice at the molecular level and in terms of synaptic function.
authors.affiliation: Department of Pediatrics, Duke University School of Medicine Durham, North Carolina, 27710.
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Wang
authors.forename: Alexandra L
authors.initials: AL
authors.lastname: Bey
authors.forename: Leeyup
authors.initials: L
authors.lastname: Chung
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Krystal
authors.forename: Yong-Hui
authors.initials: YH
authors.lastname: Jiang
mesh_terms: D000818:Animals; D002659:Child Development Disorders, Pervasive / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D009435:Synaptic Transmission; D050781:Transcranial Magnetic Stimulation
chemical_list: D009419:Nerve Tissue Proteins; C574178:SHANK1 protein, human; C122162:SHANK2 protein, human; C492357:SHANK3 protein, human
keywords: SHANK family protein; autism spectrum disorders; brain stimulation; mouse model; synapses
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