Erratum to: Animal and cellular models of familial dysautonomia.
Erratum to: Animal and cellular models of familial dysautonomia.
复制标题
勘误表：家族性自主神经功能障碍的动物和细胞模型。
DOI：
10.1007/s10286-017-0453-3
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
George,Lynn
中科院分区：
文献类型：
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作者：
Lefcort,Frances;Mergy,Marc;Ohlen,SarahB;Ueki,Yumi;George,Lynn
自从Riley和Day在60多年前首次描述家族性自主神经异常（FD）患者的临床表型以来，该领域在治疗和理解FD病因方面取得了长足的临床、科学和翻译进展。FD被归类为遗传性感觉和自主神经病变（HSAN III型），是一种发展性和进行性神经退行性疾病，由基因kbkap（也称为elp1）的常染色体隐性突变引起。FD主要影响周围神经系统，但也表现为中枢神经系统的破坏，特别是视网膜和视神经。虽然这种疾病很少见，但在阐明FD中介导神经元死亡的分子和细胞机制方面取得的快速进展应该为许多神经系统疾病共同的退行性途径提供见解。有趣的是，ikbkap /ELP1 （IKAP或ELP1）编码的蛋白是六个亚基拉长子复合物的关键支架亚基，而其他拉长子基因的变异与肌萎缩性侧索硬化症（ALS）、智力残疾和罗兰癫痫有关。在这里，我们回顾了最近的模型系统，揭示了介导FD的分子和细胞病理生理机制。这些强大的模型系统现在可以用于测试靶向治疗，以减轻FD和潜在的其他疾病的神经元损失。
Since Riley and Day first described the clinical phenotype of patients with familial dysautonomia (FD) over 60 years ago, the field has made considerable progress clinically, scientifically, and translationally in treating and understanding the etiology of FD. FD is classified as a hereditary sensory and autonomic neuropathy (HSAN type III) and is both a developmental and a progressive neurodegenerative condition that results from an autosomal recessive mutation in the geneIKBKAP, also known asELP1. FD primarily impacts the peripheral nervous system but also manifests in central nervous system disruption, especially in the retina and optic nerve. While the disease is rare, the rapid progress being made in elucidating the molecular and cellular mechanisms mediating the demise of neurons in FD should provide insight into degenerative pathways common to many neurological disorders. Interestingly, the protein encoded byIKBKAP/ELP1, IKAP or ELP1, is a key scaffolding subunit of the six-subunit Elongator complex, and variants in other Elongator genes are associated with amyotrophic lateral sclerosis (ALS), intellectual disability, and Rolandic epilepsy. Here we review the recent model systems that are revealing the molecular and cellular pathophysiological mechanisms mediating FD. These powerful model systems can now be used to test targeted therapeutics for mitigating neuronal loss in FD and potentially other disorders.