Article

Pathogenic FAM83G palmoplantar keratoderma mutations inhibit the PAWS1:CK1α association and attenuate Wnt signalling.

2020-02-17

Abstract excerpt

<h4>Background: </h4> Two recessive mutations in the FAM83G gene, causing A34E and R52P amino acid substitutions in the DUF1669 domain of the PAWS1 protein, are associated with palmoplantar keratoderma (PPK) in humans and dogs respectively. We have previously reported that PAWS1 associates with the Ser/Thr protein kinase CK1α through the DUF1669 domain to mediate canonical Wnt signalling. <h4>Methods: </h4>: Co-...

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Literature Corpus work: b0e75865-e5f9-5cc1-9c6d-4b2a77e055fe
DOI: 10.12688/wellcomeopenres.15403.2

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