Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues

• Main Authors: Franziska Hoschek (Author), Julia Natan (Author), Maximilian Wagner (Author), Kirupa Sathasivam (Author), Alshaimaa Abdelmoez (Author), Björn von Einem (Author), Gillian P. Bates (Author), G. Bernhard Landwehrmeyer (Author), Andreas Neueder (Author)
• Formato: Livro
• Publicado em: BMC, 2024-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA, HTT1a, coding for only exon 1 of HTT. HTT1a is generated by a block in the splicing reaction of H...