BAYLOR COLLEGE OF MEDICINE;RETT SYNDROME RESEARCH TRUST
发明人:
DAVID SCHEER,MONICA J. JUSTICE
申请号：
BR112015032540
公开号：
BR112015032540A2
申请日:
2014.06.26
申请国别(地区):
BR
年份:
2017
代理人:
摘要：
The present invention provides novel strategies for the treatment of rett syndrome and other mecp2-associated disorders, including the identification and / or characterization of useful therapeutic modalities and / or the stratification of rett syndrome patients to identify those who are more or less likely to respond to a particular therapy. In some embodiments, the present invention defines certain components of metabolic pathways, and particularly lipid and / or cholesterol metabolism pathways (e.g., biosynthesis), more particularly lipid and / or cholesterol metabolism pathways (e.g., biosynthesis). ) in the brain as useful targets in identifying and / or characterizing potential agents for the treatment of rett syndrome. among other things, the present invention provides systems for identifying and / or characterizing such agents by contacting them with a system comprising one or more of these metabolic pathway components, and assessing their impact on the presence, level, activity , and / or the shape of one or more indicators (e.g., relevant components, products, and / or pathway markers).a presente invenção oferece novas estratégias para o tra-tamento da síndrome de rett e outros distúrbios associados a mecp2, inclusive para a identificação e/ou caracterização de modalidades te-rapêuticas úteis e/ou para a estratificação de pacientes com síndrome de rett para identificar aqueles que mais ou menos provavelmente responderão a uma terapia particular. em algumas modalidades, a presente invenção define certos componentes das vias metabólicas, e particularmente das vias do metabolismo de lipídios e/ou colesterol (por exemplo, biossíntese), mais particularmente das vias do metabolismo de lipídios e/ou colesterol (por exemplo, biossíntese) no cérebro, como alvos úteis na identificação e/ou caracterização de potenciais agentes para o tratamento da síndrome de rett. entre outras coisas, a presente invenção oferece sistemas para identificação e/ou caracterização de tai
