Industrializing rare disease therapy discovery and development.
作者信息
Ekins Sean
机构信息
Collaborations Pharmaceuticals, Inc., Fuquay Varina, North Carolina, USA; Phoenix Nest, Brooklyn, New York, USA; and Hereditary Neuropathy Foundation, New York, New York, USA.
出版信息
Nat Biotechnol. 2017 Feb 8;35(2):117-118. doi: 10.1038/nbt.3787.
Abstract
摘要
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本文引用的文献
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Patients as key partners in rare disease drug development.患者是罕见病药物开发的关键合作伙伴。
Nat Rev Drug Discov. 2016 Nov;15(11):731-732. doi: 10.1038/nrd.2016.133. Epub 2016 Jul 22.
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Mucopolysaccharidosis IIIB confers enhanced neonatal intracranial transduction by AAV8 but not by 5, 9 or rh10.黏多糖贮积症IIIB可增强AAV8介导的新生小鼠颅内转导，但不能增强AAV5、AAV9或AAVrh10介导的新生小鼠颅内转导。
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3
The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.长尾与罕见病研究：新一代测序技术对罕见孟德尔疾病的影响
Genet Res (Camb). 2015 Sep 14;97:e15. doi: 10.1017/S0016672315000166.
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The discovery of medicines for rare diseases.罕见病药物的发现。
Future Med Chem. 2014 Jun;6(9):987-1002. doi: 10.4155/fmc.14.65.
5
Multifaceted roles of ultra-rare and rare disease patients/parents in drug discovery.超罕见病和罕见病患者/家长在药物研发中的多面角色。
Drug Discov Today. 2013 Nov;18(21-22):1043-51. doi: 10.1016/j.drudis.2013.08.006. Epub 2013 Aug 19.
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Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy.巨轴索神经病 gigaxonin 基因转移后细胞骨架动态平衡的恢复。
Hum Gene Ther. 2013 Feb;24(2):209-19. doi: 10.1089/hum.2012.107.
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Rare diseases and orphan drugs.罕见病与孤儿药。
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8
Giant axonal neuropathy.巨大轴索性神经病
Cell Mol Life Sci. 2007 Mar;64(5):601-9. doi: 10.1007/s00018-007-6396-4.
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Efficacy and safety of adeno-associated viral vectors based on serotype 8 and 9 vs. lentiviral vectors for hemophilia B gene therapy.基于8型和9型血清型的腺相关病毒载体与慢病毒载体用于B型血友病基因治疗的疗效和安全性比较
J Thromb Haemost. 2007 Jan;5(1):16-24. doi: 10.1111/j.1538-7836.2006.02220.x. Epub 2006 Sep 26.
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