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A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease
Post-translational modifications (PTMs) are key modulators of protein function. Huntington disease (HD) is a dominantly inherited neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in the huntingtin (HTT) gene. A spectrum of PTMs have been shown to modify the normal functions...
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| Publicado no: | Sci Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5970160/ https://ncbi.nlm.nih.gov/pubmed/29802276 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-25903-w |
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