Research and applications: A rational free energy-based approach to understanding and targeting disease-causing missense mutations

机译：研究与应用：一种基于自由能的合理方法用于理解和靶向引起疾病的错义突变

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Background and significanceIntellectual disability is a condition characterized by significant limitations in cognitive abilities and social/behavioral adaptive skills and is an important reason for pediatric, neurologic, and genetic referrals. Approximately 10% of protein-encoding genes on the X chromosome are implicated in intellectual disability, and the corresponding intellectual disability is termed X-linked ID (XLID). Although few mutations and a small number of families have been identified and XLID is rare, collectively the impact of XLID is significant because patients usually are unable to fully participate in society.

机译：背景和意义智力障碍是一种以认知能力和社交/行为适应能力受到明显限制为特征的疾病，是儿科，神经病学和遗传学转诊的重要原因。 X染色体上大约10％的蛋白质编码基因与智力障碍有关，相应的智力障碍被称为X连锁ID（XLID）。尽管已鉴定出很少的突变和少数家庭，而且XLID很少见，但由于患者通常无法充分参与社会活动，因此XLID的总体影响很大。

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期刊名称 Journal of the American Medical Informatics Association : JAMIA
作者
Zhe Zhang; Shawn Witham; Marharita Petukh; Gautier Moroy; Maria Miteva; Yoshihiko Ikeguchi; Emil Alexov;
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作者单位

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年(卷),期 2013(20),4
年度 2013
页码 643–651
总页数 9
原文格式 PDF
正文语种
中图分类
关键词
In Silico Modeling Experimenatal Measurements Mental Disorders Missense Mutation Small Molecule Screening;

机译：计算机模拟;实验产后测量;精神障碍;错义突变;小分子筛查;

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1. A rational free energy-based approach to understanding and targeting disease-causing missense mutations [J] . ZhangZ., WithamS., PetukhM., Journal of the American Medical Informatics Association : . 2013,第4期

机译：一种基于自由能的合理方法来理解和靶向引起疾病的错义突变
2. Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein. [J] . Sabbagh Y, Boileau G, DesGroseillers L, Human Molecular Genetics . 2001,第15期

机译：PHEX基因中引起疾病的错义突变会干扰重组蛋白的膜靶向。
3. Unique cell biological profiles of retinal disease-causing missense mutations in the polarity protein Crumbs [J] . Pellikka Milena, Tepass Ulrich Journal of Cell Science . 2017,第13期

机译：视网膜疾病的独特细胞生物学曲线，导致极性蛋白面包屑中的畸形突变
4. Algorithm Optimization of Minimum Free Energy-Based Amino Acid Sequence Permutation using OpenCL [C] . Elias Lloyd-Yemoh, Huibin Shi Symposium on Computational Science . 2017

机译：使用OpenCL的最小自由能基氨基酸序列置换算法优化
5. Targeted gene repair of frameshift mutations: Insights into the mechanism and applications for gene therapy [D] . Maguire, Katie K. 2007

机译：移码突变的靶向基因修复：深入了解基因治疗的机制和应用
6. Rational Design of Small-Molecule Stabilizers of Spermine Synthase Dimer by Virtual Screening and Free Energy-Based Approach [O] . Zhe Zhang, Virginie Martiny, David Lagorce, 2010

机译：通过虚拟筛选和基于自由能的方法合理设计精胺合酶二聚体的小分子稳定剂
7. Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein [O] . Y. Sabbagh 2001

机译：导致Phex基因中的致畸突变干扰重组蛋白的膜靶向

Research and applications: A rational free energy-based approach to understanding and targeting disease-causing missense mutations

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