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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: johansson bb, johansson s. 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.
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: johansson s. 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.
SUMOylation of pancreatic glucokinase regulates its cellular stability and activity.
Aukrust I, Bjørkhaug L, Negahdar M, Molnes J, Johansson BB, Müller Y, Haas W, Gygi SP, Søvik O, Flatmark T, Kulkarni RN, Njølstad PR. Aukrust I, et al. Among authors: johansson bb. J Biol Chem. 2013 Feb 22;288(8):5951-62. doi: 10.1074/jbc.M112.393769. Epub 2013 Jan 7. J Biol Chem. 2013. PMID: 23297408 Free PMC article.
GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.
Negahdar M, Aukrust I, Molnes J, Solheim MH, Johansson BB, Sagen JV, Dahl-Jørgensen K, Kulkarni RN, Søvik O, Flatmark T, Njølstad PR, Bjørkhaug L. Negahdar M, et al. Among authors: johansson bb. Mol Cell Endocrinol. 2014 Jan 25;382(1):55-65. doi: 10.1016/j.mce.2013.08.020. Epub 2013 Aug 31. Mol Cell Endocrinol. 2014. PMID: 24001579
223 results