Publications by authors named "Grace E Curry"
Background & Aims: Protease-sensitive PNLIP variants were recently associated with chronic pancreatitis (CP) in European populations. The pathological mechanism yet remains elusive. Herein, we performed a comprehensive genetic and functional analysis of PNLIP variants found in a large Chinese cohort, aiming to further unravel the enigmatic association of PNLIP variants with CP.
View Article and Find Full Text PDFThe CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is extremely polymorphic due to a variable number tandem repeat (VNTR) located in the last exon. Single-base deletions within this VNTR cause the inherited disorder MODY8, whereas little is known about VNTR single-base insertions in pancreatic disease.
View Article and Find Full Text PDFArticle Synopsis
- A study identified three novel mutations in the PNLIP gene related to congenital pancreatic lipase deficiency (CPLD), which impairs pancreatic enzyme function.
- Researchers examined how these mutations affected PNLIP's secretion and caused endoplasmic reticulum (ER) stress in lab cells.
- All mutations resulted in defective secretion, with two specific variants causing protein misfolding and potentially leading to damage in pancreatic cells.