Can leukocyte telomere shortening be a possible biomarker to track Huntington’s disease progression?
Elide Mantuano
Martina Peconi
Daniela Scarabino
摘要：Huntington’s disease (HD): HD is an autosomal dominant neurode-generative disease, caused by a CAG trinucleotide repeat expansion in the first exon of the HTT gene encoding the huntingtin protein. The mutant protein contains an expanded polyglutamine sequence that confers a toxic gain-of-function and causes neurodegeneration. More-over, several studies indicate that loss of the normal protein beneficial functions, contribute to the pathology (Schulte and Littleton 2011). Triplet expansion over 40 repeats are fully penetrant and invariably lead to manifest HD in the fourth or fifth decade of life.
机标关键词：
资助基金：Sapienza University of Rome(2017/2018)
论文发表日期：2019-01-01
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：2( 1709-1710 )