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治疗验证和针对智力障碍中失调的信号网络的靶向治疗。

Therapeutic validation and targeting of signalling networks that are dysregulated in intellectual disability.

机构信息

Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA.

Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, USA.

出版信息

FEBS J. 2023 Mar;290(6):1454-1460. doi: 10.1111/febs.16411. Epub 2022 Feb 28.

Abstract

Intellectual disability (ID) represents a major burden on healthcare systems in the developed world. However, there is a disconnect between our knowledge of genes that are mutated in ID and our understanding of the underpinning molecular mechanisms that cause these disorders. We argue that elucidating the signalling and transcriptional networks that are dysregulated in patients will afford new therapeutic opportunities.

摘要

智力残疾(ID)代表了发达国家医疗体系的一个主要负担。然而,我们对导致 ID 的基因突变基因的了解与我们对导致这些疾病的潜在分子机制的理解之间存在脱节。我们认为,阐明在患者中失调的信号和转录网络将提供新的治疗机会。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7589/10952735/670f4fa7dd4e/FEBS-290-1454-g002.jpg

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