Sturge-Weber Syndrome (SWS) is a neurocutaneous disease with clinical manifestations including ocular (glaucoma), cutaneous (port-wine birthmark), neurologic (seizures), and vascular problems. Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ. Therefore, no definite treatments exist for SWS and treatment options only mitigate the intensity of its clinical manifestations. Biological assay design for drug discovery against this syndrome demands comprehensive knowledge on mechanisms which are involved in its pathogenesis. By analysis of the interrelated molecular targets of SWS, some in vitro bioassay systems can be allotted for drug screening against its progression. Development of such platforms of bioassay can bring along the implementation of high-throughput screening of natural or synthetic compounds in drug discovery programs. Regarding the fact that study of molecular targets and their integration in biological assay design can facilitate the process of effective drug discovery; some potential biological targets and their respective biological assay for SWS drug discovery are propounded in this review. For this purpose, some biological targets for SWS drug discovery such as acetylcholinesterase, alkaline phosphatase, GABAergic receptors, Hypoxia-Inducible Factor (HIF)-1α and 2α are suggested.

中文翻译：

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Sturge-Weber综合征药物发现中生物测定开发的潜在生物学靶标。

斯特奇韦伯综合症（Surge）-Weber综合征（SWS）是一种神经皮肤疾病，其临床表现包括眼（青光眼），皮肤（口酒胎记），神经系统（癫痫发作）和血管问题。SWS发病机理的分子机制是由GNAQ中的体细胞突变引发的。因此，对于SWS尚无明确的治疗方法，并且治疗选择只能减轻其临床表现的强度。针对这种综合征的药物发现的生物学测定设计需要其发病机理中涉及的机制的全面知识。通过分析SWS的相关分子靶标，可以将一些体外生物测定系统分配用于针对其进展的药物筛选。此类生物测定平台的开发可以带来药物发现计划中天然或合成化合物高通量筛选的实施。关于对分子靶标及其在生物测定设计中的整合的研究可以促进有效药物发现的过程这一事实；在这篇综述中提出了一些潜在的生物学靶标以及用于SWS药物发现的各自的生物学测定方法。为此，建议了一些用于SWS药物发现的生物学靶标，例如乙酰胆碱酯酶，碱性磷酸酶，GABA能受体，缺氧诱导因子（HIF）-1α和2α。在这篇综述中提出了一些潜在的生物学靶标以及用于SWS药物发现的各自的生物学测定方法。为此，建议了一些用于SWS药物发现的生物学靶标，例如乙酰胆碱酯酶，碱性磷酸酶，GABA能受体，缺氧诱导因子（HIF）-1α和2α。在这篇综述中提出了一些潜在的生物学靶标以及用于SWS药物发现的各自的生物学测定方法。为此，建议了一些用于SWS药物发现的生物学靶标，例如乙酰胆碱酯酶，碱性磷酸酶，GABA能受体，缺氧诱导因子（HIF）-1α和2α。