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In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
Pakdaman Y, Sanchez-Guixé M, Kleppe R, Erdal S, Bustad HJ, Bjørkhaug L, Haugarvoll K, Tzoulis C, Heimdal K, Knappskog PM, Johansson S, Aukrust I. Pakdaman Y, et al. Among authors: bjorkhaug l. Biosci Rep. 2017 Apr 28;37(2):BSR20170251. doi: 10.1042/BSR20170251. Print 2017 Apr 30. Biosci Rep. 2017. PMID: 28396517 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: bjorkhaug l. 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: bjorkhaug l. 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: bjorkhaug l. 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
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S. Heimdal K, et al. Among authors: bjorkhaug l. Orphanet J Rare Dis. 2014 Sep 26;9:146. doi: 10.1186/s13023-014-0146-0. Orphanet J Rare Dis. 2014. PMID: 25258038 Free PMC article.
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.
Rozenkova K, Malikova J, Nessa A, Dusatkova L, Bjørkhaug L, Obermannova B, Dusatkova P, Kytnarova J, Aukrust I, Najmi LA, Rypackova B, Sumnik Z, Lebl J, Njølstad PR, Hussain K, Pruhova S. Rozenkova K, et al. Among authors: bjorkhaug l. J Clin Endocrinol Metab. 2015 Dec;100(12):E1540-9. doi: 10.1210/jc.2015-2763. Epub 2015 Oct 2. J Clin Endocrinol Metab. 2015. PMID: 26431509
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