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    Methods and assays for treating subjects with SHANK3 deletion, mutation or reduced expression
    1.
    发明授权
    Methods and assays for treating subjects with SHANK3 deletion, mutation or reduced expression 有权
    用SHANK3缺失，突变或降低表达治疗受试者的方法和测定法

    公开(公告)号：US08691762B2

    公开(公告)日：2014-04-08

    申请号：US13425633

    申请日：2012-03-21

    申请人： Joseph Buxbaum ,  Takeshi Sakurai ,  Ozlem Gunal

    发明人： Joseph Buxbaum ,  Takeshi Sakurai ,  Ozlem Gunal

    IPC分类号： A61K38/30

    CPC分类号： A61K49/0008 ,  A61K31/00 ,  A61K38/06 ,  A61K38/27 ,  A61K38/30 ,  G01N33/53 ,  G01N2333/65 ,  G01N2333/72

    摘要： Methods and assays are disclosed for treating subjects with 22q13 deletion syndrome or SHANK3 deletion or duplication, mutation or reduced expression, where the methods comprise administering to the subject insulin-like growth factor 1 (IGF-1), IGF-1-derived peptide or analog, growth hormone, an AMPAkine, a compound that directly or indirectly enhances glutamate neurotransmission, including by inhibiting inhibitory (most typically GABA) transmission, or an agent that activates the growth hormone receptor or the insulin-like growth factor 1 (IGF-1) receptor, or a downstream signaling pathway thereof.

    摘要翻译： 公开了用于治疗具有22q13缺失综合征或SHANK3缺失或复制，突变或降低表达的受试者的方法和测定法，其中所述方法包括对受试者施用胰岛素样生长因子1（IGF-1），IGF-1衍生的肽或 类似物，生长激素，AMPAkine，直接或间接增强谷氨酸神经传递的化合物，包括通过抑制（最典型的GABA）传递，或激活生长激素受体或胰岛素样生长因子1（IGF-1 ）受体或其下游信号传导途径。