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Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation

2 Nov 2020

Abstract excerpt

Germline mutations in the folliculin (FLCN) tumor suppressor gene are linked to Birt-Hogg-Dubé (BHD) syndrome, a dominantly inherited genetic disease characterized by predisposition to fibrofolliculomas, lung cysts, and renal cancer. Most BHD-linked FLCN variants include large deletions and splice site aberrations predicted to cause loss of function. The mechanisms by which missense variants and short in-frame...

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PMID: 33137092
DOI: 10.1371/journal.pgen.1009187

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