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Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.
Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA. Brunetti D, et al. Among authors: torsvik j. EMBO Mol Med. 2016 Mar 1;8(3):176-90. doi: 10.15252/emmm.201505894. EMBO Mol Med. 2016. PMID: 26697887 Free PMC article.
Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease.
Johansson BB, Torsvik J, Bjørkhaug L, Vesterhus M, Ragvin A, Tjora E, Fjeld K, Hoem D, Johansson S, Ræder H, Lindquist S, Hernell O, Cnop M, Saraste J, Flatmark T, Molven A, Njølstad PR. Johansson BB, et al. Among authors: torsvik j. J Biol Chem. 2011 Oct 7;286(40):34593-605. doi: 10.1074/jbc.M111.222679. Epub 2011 Jul 22. J Biol Chem. 2011. PMID: 21784842 Free PMC article.
A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.
Fjeld K, Weiss FU, Lasher D, Rosendahl J, Chen JM, Johansson BB, Kirsten H, Ruffert C, Masson E, Steine SJ, Bugert P, Cnop M, Grützmann R, Mayerle J, Mössner J, Ringdal M, Schulz HU, Sendler M, Simon P, Sztromwasser P, Torsvik J, Scholz M, Tjora E, Férec C, Witt H, Lerch MM, Njølstad PR, Johansson S, Molven A. Fjeld K, et al. Among authors: torsvik j. Nat Genet. 2015 May;47(5):518-522. doi: 10.1038/ng.3249. Epub 2015 Mar 16. Nat Genet. 2015. PMID: 25774637 Free PMC article.
Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer.
Dalva M, El Jellas K, Steine SJ, Johansson BB, Ringdal M, Torsvik J, Immervoll H, Hoem D, Laemmerhirt F, Simon P, Lerch MM, Johansson S, Njølstad PR, Weiss FU, Fjeld K, Molven A. Dalva M, et al. Among authors: torsvik j. Pancreatology. 2017 Jan-Feb;17(1):83-88. doi: 10.1016/j.pan.2016.10.006. Epub 2016 Oct 11. Pancreatology. 2017. PMID: 27773618
Biological variation of cardiac myosin-binding protein C in healthy individuals.
Alaour B, Omland T, Torsvik J, Kaier TE, Sylte MS, Strand H, Quraishi J, McGrath S, Williams L, Meex S, Redwood S, Marber M, Aakre KM. Alaour B, et al. Among authors: torsvik j. Clin Chem Lab Med. 2021 Jun 23;60(4):576-583. doi: 10.1515/cclm-2021-0306. Print 2022 Mar 28. Clin Chem Lab Med. 2021. PMID: 34162037 Free article.
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