Five human diseases are due to an excessive number of CAG repeats in the coding regions of five different genes. We have analyzed the repeat regions in four of these genes from nonhuman primates, whic

PubMed Central1996-01-09 更新50

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy.

三核苷酸重复扩增疾病

RNA结合蛋白功能

Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease that is associated with a (CTG)n repeat expansion in the 3'-untranslated region of the myotonin protein kinase (Mt-PK) gene. This

PubMed Central1996-11-15 更新40

Ubiquitous Expression of CUG or CAG Trinucleotide Repeat RNA Causes Common Morphological Defects in a Drosophila Model of RNA-Mediated Pathology

"RNA研究"

三核苷酸重复扩增疾病

Expanded DNA repeat sequences are known to cause over 20 diseases, including Huntington’s disease, several types of spinocerebellar ataxia and myotonic dystrophy type 1 and 2. A shared genetic basis,

Figshare2016-01-19 更新70

Alleviating transcript insufficiency caused by Friedreich’s ataxia triplet repeats

转录延伸障碍机制

三核苷酸重复扩增疾病

Expanded GAA·TTC trinucleotide repeats in intron 1 of the frataxin gene cause Friedreich’s ataxia (FRDA) by reducing frataxin mRNA levels. Insufficient frataxin, a nuclear encoded mitochondrial protei

PubMed Central2000-12-15 更新40

A novel approach to investigate tissue-specific trinucleotide repeat instability

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