ArticlePancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]2023
Characterization of novel PNLIP variants in congenital pancreatic lipase deficiency.
Article in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Characterization of a PNLIP variant identified in Amish pediatric patients with congenital pancreatic lipase deficiency.Journal of lipid research · 2025Article
- Exploring the enigmatic association between PNLIP variants and risk of chronic pancreatitis in a large Chinese cohort.Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2024Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
BACKGROUND/
objectivesStudies of a rare homozygous missense mutation identified in two brothers diagnosed with congenital pancreatic lipase deficiency (CPLD) provided the first definitive evidence linking CPLD with missense mutations in the gene of PNLIP. Herein, we investigated the molecular basis for the loss-of-function in the three novel PNLIP variants (c.305G > A, p.(W102∗); c.562C > T, p.(R188C); and c.1257G > A, p.(W419∗)) associated with CPLD.
methodsWe characterized three novel PNLIP variants in transfected cells by assessing their secretion, intracellular distribution, and markers of endoplasmic reticulum (ER) stress.
resultsAll three variants had secretion defects. Notably, the p.R188C and p.W419∗ variants induced misfolding of PNLIP and accumulated as detergent-insoluble aggregates resulting in elevated BiP at both protein and mRNA levels indicating increased ER stress.
conclusionsAll three novel PNLIP variants cause a loss-of-function through impaired secretion. Additionally, the p.R188C and p.W419∗ variants may induce proteotoxicity through misfolding and potentially increase the risk for pancreatic acinar cell injury.
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