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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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Detalles Bibliográficos
Autores principales:	Martin, D. D. O., Kay, C., Collins, J. A., Nguyen, Y. T., Slama, R. A., Hayden, M. R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970160/ https://www.ncbi.nlm.nih.gov/pubmed/29802276 http://dx.doi.org/10.1038/s41598-018-25903-w

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