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

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...

Descrición completa

Detalles Bibliográficos

Principais autores:	Franziska Hoschek, Julia Natan, Maximilian Wagner, Kirupa Sathasivam, Alshaimaa Abdelmoez, Björn von Einem, Gillian P. Bates, G. Bernhard Landwehrmeyer, Andreas Neueder
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2024-03-01
Series:	Molecular Medicine
Assuntos:	Huntington disease Digital PCR Neurodegeneration Alternative splicing Biomarker
Acceso en liña:	https://doi.org/10.1186/s10020-024-00801-2
Tags:	Engadir etiqueta Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!