Background Intermediate Alleles (IAs) are expansions of CAG repeats in the HTT gene between 27 and 35 repeats which pathogenic meaning remains controversial. They are present in the general population but there is an increasing number of cases with Huntington-like phenotype reported. Methods We ...
Votoplam: 一种HTT基因调节剂、splicing factor调节剂药物,由PTC Therapeutics, Inc. (PTC Therapeutics, Inc.)公司最早进行研发,目前全球最高研发状态为临床2期,作用机制: HTT基因调节剂,splicing factor调节剂(剪接因子调节剂),治疗领域: 神经系统疾病,遗传病与畸形,
Background: Intermediate Alleles (IAs) are expansions of CAG repeats in the HTT gene between 27 and 35 repeats which pathogenic meaning remains controversial. They are present in the general population but there is an increasing number of cases with Huntington-like phenotype reported.Reguera Acuna,...
Huntington’s disease (HD) is a neurodegenerative disorder caused by the expansion of the CAG repeat in exon 1 of the HTT gene, leading to the formation of a toxic variant of the huntingtin protein. It is a rare but severe hereditary disease for which no effective treatment method has been...