Title: The huntingtin protein in Huntington disease
Abstract: Huntingtin disease (HD) is
an autosomal dominant inheritable disease that mainly affects the brain. HD is
caused by expansion of a CAG repeat within exon 1 of the huntingtin gene giving
rise to the expression of a mutant huntingtin protein with an elongated polyQ
repeat at it's N-terminus. Mutant huntingtin is prone to aggregation and is
believed to invoke toxicity, especially by the formation of N-terminal
fragments. The first part of this thesis describes the selection and
characterization of Llama VHH antibody fragments against N-terminal huntingtin.
The second part of this thesis consists of studies on huntingtin in human
(brain) tissue regarding N-terminal fragments, huntingtin aggregation and
mutant versus wild-type huntingtin expression levels.
Publication Year: 2017
Publication Date: 2017-09-20
Language: en
Type: article
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