Article
Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W.
Cells - 13 Sept 2024
Bustillos Bernardo A, Cocker Liam T, Coban Mathew A, Weber Caleb A, Bredenberg Jenny M, Boneski Paige K, Siuda Joanna, Slawek Jaroslaw, Puschmann Andreas, Narendra Derek P, Graff-Radford Neill R, Wszolek Zbigniew K, Dickson Dennis W, Ross Owen A, Caulfield Thomas R, Springer Wolfdieter, Fiesel Fabienne C
Abstract excerpt
Mutations in the PINK1 and PRKN genes are the most frequent genetic cause of early-onset Parkinson disease. The pathogenic p.R275W substitution in PRKN is the most frequent substitution observed in patients, and thus far has been characterized mostly through overexpression models that suggest a possible gain of toxic misfunction. However, its effects under endogenous conditions are largely unknown. We used...
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