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Polyglutamine spinocerebellar ataxias — from genes to potential treatments
Nature Reviews Neuroscience ( IF 34.7 ) Pub Date : 2017-08-17 00:00:00 , DOI: 10.1038/nrn.2017.92
Henry L. Paulson , Vikram G. Shakkottai , H. Brent Clark , Harry T. Orr

The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and SCA7) are caused by expansion of a glutamine-encoding CAG repeat in the affected gene. These SCAs represent a substantial portion of the polyglutamine neurodegenerative disorders and provide insight into this class of diseases as a whole. Recent years have seen considerable progress in deciphering the clinical, pathological, physiological and molecular aspects of the polyglutamine SCAs, with these advances establishing a solid base from which to pursue potential therapeutic approaches.

中文翻译:

聚谷氨酰胺小脑共济失调-从基因到潜在治疗

显性遗传的脊髓小脑共济失调(SCA)是一大类各种各样的神经退行性疾病。最普遍的SCA(SCA1,SCA2,SCA3,SCA6和SCA7)是由受影响基因中编码谷氨酰胺的CAG重复序列的扩增引起的。这些SCA代表了聚谷氨酰胺神经退行性疾病的很大一部分,并从整体上提供了对此类疾病的了解。近年来,在解读聚谷氨酰胺SCA的临床,病理,生理和分子方面取得了长足的进步,这些进展为寻求潜在的治疗方法奠定了坚实的基础。
更新日期:2017-09-19
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