Martinez lab
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Novel interaction of the co-chaperone DNAJC12 with phenylalanine hydroxylase variants

Researchers from the lab of Aurora Martinez describe a novel mechanism for the degradation of enzymes involved in phenylketonuria and other neurometabolic disorders.

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We showed that mutant phenylalanine hydroxylase (PAH) exhibits increased ubiquitination compared with normal PAH. We also showed that the co-chaperone DNAJC12 interacts with monoubiquitin-tagged PAH. The results indicate a role of DNAJC12 in the processing of misfolded ubiquitinated PAH.

Our image was featured on the cover of the April 2019 issue of Human Mutation.