Article
A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease.
Scientific reports - 25 May 2018
Martin D D O, Kay C, Collins J A, Nguyen Y T, Slama R A, Hayden M R
Abstract excerpt
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 of HTT, including proteolysis, phosphorylation and lipidation, but the full contribution of these PTMs to the...
Topics
- Base Sequence
- Gene Frequency
- Humans
- Huntingtin Protein
- Huntington Disease
- Phenotype
- Polymorphism, Single Nucleotide
- Protein Processing, Post-Translational
- Proteolysis