Functional genomics, genetic risk profiling and cell phenotypes in neurodegenerative disease.
Functional genomics, genetic risk profiling and cell phenotypes in neurodegenerative disease.
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DOI：
10.1016/j.nbd.2020.105088
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发表时间：
2020-12
影响因子：
6.1
通讯作者：
Finkbeiner S
中科院分区：
文献类型：
--
作者：
Finkbeiner S
人类遗传学提供了对人类疾病原因的公正见解，可用于为更准确地诊断患者的有效方法奠定基础，对患者进行分层以进行更成功的临床试验，发现和开发新疗法，并最终帮助患者根据其风险状况选择最安全和最有前途的治疗方案。但是，将人类遗传学研究的基本观察结果转化为致病性疾病机制和治疗方法的过程既费力又复杂，这一挑战尤其减缓了神经退行性疾病干预措施的发展。在这篇综述中，我们讨论了这个过程中的许多步骤，每个阶段的重要考虑因素，以及一些最新的工具和技术，这些工具和技术可以帮助研究人员将人类遗传学的见解转化为诊断和治疗策略，从而导致临床护理的进步，为患者带来改变。
Human genetics provides unbiased insights into the causes of human disease, which can be used to create a foundation for effective ways to more accurately diagnose patients, stratify patients for more successful clinical trials, discover and develop new therapies, and ultimately help patients choose the safest and most promising therapeutic option based on their risk profile. But the process for translating basic observations from human genetics studies into pathogenic disease mechanisms and treatments is laborious and complex, and this challenge has particularly slowed the development of interventions for neurodegenerative disease. In this review, we discuss the many steps in the process, the important considerations at each stage, and some of the latest tools and technologies that are available to help investigators translate insights from human genetics into diagnostic and therapeutic strategies that will lead to the sort of advances in clinical care that make a difference for patients.
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DOI：
10.1016/j.mcn.2013.07.007
发表时间：
2013-09
期刊：
Molecular and cellular neurosciences
影响因子：
--
作者：
Burkhardt MF;Martinez FJ;Wright S;Ramos C;Volfson D;Mason M;Garnes J;Dang V;Lievers J;Shoukat-Mumtaz U;Martinez R;Gai H;Blake R;Vaisberg E;Grskovic M;Johnson C;Irion S;Bright J;Cooper B;Nguyen L;Griswold-Prenner I;Javaherian A
通讯作者：
Javaherian A
去泛素酶USP12在亨廷顿氏病模型中诱导自噬和赋予神经保护作用。
影响因子：
16.6
作者：
Aron R;Pellegrini P;Green EW;Maddison DC;Opoku-Nsiah K;Oliveira AO;Wong JS;Daub AC;Giorgini F;Muchowski P;Finkbeiner S
通讯作者：
Finkbeiner S
影响因子：
9.8
作者：
Church DM;Goodstadt L;Hillier LW;Zody MC;Goldstein S;She X;Bult CJ;Agarwala R;Cherry JL;DiCuccio M;Hlavina W;Kapustin Y;Meric P;Maglott D;Birtle Z;Marques AC;Graves T;Zhou S;Teague B;Potamousis K;Churas C;Place M;Herschleb J;Runnheim R;Forrest D;Amos-Landgraf J;Schwartz DC;Cheng Z;Lindblad-Toh K;Eichler EE;Ponting CP;Mouse Genome Sequencing Consortium
通讯作者：
Mouse Genome Sequencing Consortium
影响因子：
3.6
作者：
Cobb MM;Ravisankar A;Skibinski G;Finkbeiner S
通讯作者：
Finkbeiner S
DOI：
10.1007/978-1-62703-511-8_7
发表时间：
2013
期刊：
Methods in molecular biology (Clifton, N.J.)
影响因子：
--
作者：
Churko JM;Burridge PW;Wu JC
通讯作者：
Wu JC