Associated Papers
Diverse Misfolding Mutant Digestive Enzymes Cause Chronic Pancreatitis Through Common Pathways.
Wilhelm SJ et al.
Cellular and Molecular Gastroenterology and Hepatology, 2026
Distinct chronic Pancreatitis Genetic Variants CPA1 N256K and PNLIP T221M Share Common Pathological Grounds.
Cooley MM et al.
Cellular and Molecular Gastroenterology and Hepatology, 2025
Misfolding CPA1 mutation accelerates precancerous pancreas lesions in KC mice.
Demcsák A et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2025
Characterization of a PNLIP variant identified in Amish pediatric patients with congenital pancreatic lipase deficiency.
Curry GE et al.
Journal of Lipid Research, 2025
Modeling protease-sensitive human pancreatic lipase mutations in the mouse ortholog.
Hoffka G et al.
The Journal of Biological Chemistry, 2024
Exploring the enigmatic association between PNLIP variants and risk of chronic pancreatitis in a large Chinese cohort.
Cassidy BM et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Characterization of novel PNLIP variants in congenital pancreatic lipase deficiency.
Lin J et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023
Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.
Khan E et al.
Global Medical Genetics, 2023
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.
Masson E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023
Preclinical mouse model of a misfolded PNLIP variant develops chronic pancreatitis.
Zhu G et al.
Gut, 2023
Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study.
Kamal NM et al.
Therapeutic Advances in Chronic Disease, 2022
Cigarette smoke toxin hydroquinone and misfolding pancreatic lipase variant cooperatively promote endoplasmic reticulum stress and cell death.
Kassay N et al.
Plos One, 2022
Forty-five patient-derived xenografts capture the clinical and biological heterogeneity of Wilms tumor.
Murphy AJ et al.
Nature Communications, 2019
Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.
Sahin-Tóth M
Current Opinion in Gastroenterology, 2017
A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate Apoptosis.
Xiao X et al.
The Journal of Biological Chemistry, 2016
A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding.
Szabó A et al.
Biochimica Et Biophysica Acta, 2015
Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.
Behar DM et al.
Journal of Lipid Research, 2014