Huntington's disease: nearly four decades of human molecular genetics

被引：19
|
作者：
Gusella, James F. [1 ,2 ,3 ]
Lee, Jong-Min [1 ,2 ,4 ]
MacDonald, Marcy E. [1 ,2 ,4 ]
机构：
[1] Massachusetts Gen Hosp, Ctr Genom Med, Mol Neurogenet Unit, Boston, MA 02114 USA
[2] Broad Inst MIT & Harvard, Med & Populat Genet Program, Cambridge, MA 02142 USA
[3] Harvard Med Sch, Blavatnik Inst, Dept Genet, Boston, MA 02115 USA
[4] Harvard Med Sch, Dept Neurol, Boston, MA 02115 USA
来源：
HUMAN MOLECULAR GENETICS | 2021年 / 30卷 / R2期
基金：
美国国家卫生研究院;
关键词：
NEURONAL INTRANUCLEAR INCLUSIONS; CAG REPEAT INSTABILITY; TRINUCLEOTIDE REPEAT; SOMATIC INSTABILITY; EMBRYONIC LETHALITY; TRIPLET REPEAT; EXON-1; PROTEIN; HD GENE; ONSET; EXPANSION;
D O I：
10.1093/hmg/ddab170
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Huntington's disease (HD) is a devastating neurogenetic disorder whose familial nature and progressive course were first described in the 19th century but for which no disease-modifying treatment is yet available. Through the active participation of HD families, this disorder has acted as a flagship for the application of human molecular genetic strategies to identify disease genes, understand pathogenesis and identify rational targets for development of therapies.
引用
收藏
页码：R254 / R263
页数：10
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