Publications by authors named "Brett M Cassidy"
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.
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- 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.
Objective: Increasing evidence implicates mutation-induced protein misfolding and endoplasm reticulum (ER) stress in the pathophysiology of chronic pancreatitis (CP). The paucity of animal models harbouring genetic risk variants has hampered our understanding of how misfolded proteins trigger CP. We previously showed that pancreatic triglyceride lipase (PNLIP) p.
View Article and Find Full Text PDFGenetic variants contribute to the risk of chronic pancreatitis (CP) in adults and children. The risk variant CEL-HYB1, a recombinant hybrid allele of CEL and its neighboring pseudogene (CELP), encodes a pathogenic variant of the pancreatic digestive enzyme carboxyl ester lipase (CEL). We previously identified combinations of two non-synonymous SNPs, c.
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