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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...

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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 em: BMC 2024-03-01
coleção:Molecular Medicine
Assuntos:
Huntington disease
Digital PCR
Neurodegeneration
Alternative splicing
Biomarker
Acesso em linha:https://doi.org/10.1186/s10020-024-00801-2
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