Article
A mutational atlas for Parkin proteostasis.
Nature communications - 20 Feb 2024
Clausen Lene, Voutsinos Vasileios, Cagiada Matteo, Johansson Kristoffer E, Grønbæk-Thygesen Martin, Nariya Snehal, Powell Rachel L, Have Magnus K N, Oestergaard Vibe H, Stein Amelie, Fowler Douglas M, Lindorff-Larsen Kresten, Hartmann-Petersen Rasmus
Abstract excerpt
Proteostasis can be disturbed by mutations affecting folding and stability of the encoded protein. An example is the ubiquitin ligase Parkin, where gene variants result in autosomal recessive Parkinsonism. To uncover the pathological mechanism and provide comprehensive genotype-phenotype information, variant abundance by massively parallel sequencing (VAMP-seq) is leveraged to quantify the abundance of Parkin...
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