Article
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] - 1 Aug 2023
Masson Emmanuelle, Berthet Stéphanie, Le Gac Gerald, Le Rhun Marc, Ka Chandran, Autret Sandrine, Gourlaouen Isabelle, Cooper David N, Férec Claude, Rebours Vinciane, Chen Jian-Min
Abstract excerpt
Mutations in the PNLIP gene have recently been implicated in chronic pancreatitis. Several PNLIP missense variants have been reported to cause protein misfolding and endoplasmic reticulum stress although genetic evidence supporting their association with chronic pancreatitis is currently lacking. Protease-sensitive PNLIP missense variants have also been associated with early-onset chronic pancreatitis although...
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