Article
Integrative determination of atomic structure of mutant huntingtin exon 1 fibrils implicated in Huntington disease.
Nature communications - 30 Dec 2024
Bagherpoor Helabad Mahdi, Matlahov Irina, Kumar Raj, Daldrop Jan O, Jain Greeshma, Weingarth Markus, van der Wel Patrick C A, Miettinen Markus S
Abstract excerpt
Neurodegeneration in Huntington's disease (HD) is accompanied by the aggregation of fragments of the mutant huntingtin protein, a biomarker of disease progression. A particular pathogenic role has been attributed to the aggregation-prone huntingtin exon 1 (HTTex1), generated by aberrant splicing or proteolysis, and containing the expanded polyglutamine (polyQ) segment. Unlike amyloid fibrils from Parkinson's and...
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