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A pathogenic proteolysis–resistant huntingtin isoform induced by an antisense oligonucleotide maintains huntingtin function
Huntington’s disease (HD) is a late-onset neurological disorder for which therapeutics are not available. Its key pathological mechanism involves the proteolysis of polyglutamine-expanded (polyQ-expanded) mutant huntingtin (mHTT), which generates N-terminal fragments containing polyQ, a key contribu...
Autores principales: | Kim, Hyeongju, Lenoir, Sophie, Helfricht, Angela, Jung, Taeyang, Karneva, Zhana K., Lee, Yejin, Beumer, Wouter, van der Horst, Geert B., Anthonijsz, Herma, Buil, Levi C.M., van der Ham, Frits, Platenburg, Gerard J., Purhonen, Pasi, Hebert, Hans, Humbert, Sandrine, Saudou, Frédéric, Klein, Pontus, Song, Ji-Joon |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Clinical Investigation
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9536263/ https://www.ncbi.nlm.nih.gov/pubmed/35943803 http://dx.doi.org/10.1172/jci.insight.154108 |
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