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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.
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.
[Molecular diagnostics in diabetes mellitus].
Bjørkhaug L, Johansson S, Raeder H, Thorsby PM, Undlien DE, Søvik O, Molven A, Sagen JV, Njølstad PR. Bjørkhaug L, et al. Tidsskr Nor Laegeforen. 2005 Nov 3;125(21):2968-72. Tidsskr Nor Laegeforen. 2005. PMID: 16276383 Free article. Review. Norwegian.
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.
42 results