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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: aukrust i. Biosci Rep. 2017 Apr 28;37(2):BSR20170251. doi: 10.1042/BSR20170251. Print 2017 Apr 30. Biosci Rep. 2017. PMID: 28396517 Free PMC article.
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B. Storbeck M, et al. Among authors: aukrust i. Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635954 Free PMC article.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Among authors: aukrust i. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.
Berland S, Toft-Bertelsen TL, Aukrust I, Byska J, Vaudel M, Bindoff LA, MacAulay N, Houge G. Berland S, et al. Among authors: aukrust i. Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1):a002303. doi: 10.1101/mcs.a002303. Print 2018 Feb. Cold Spring Harb Mol Case Stud. 2018. PMID: 29437797 Free PMC article.
Dominant ARL3-related retinitis pigmentosa.
Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G. Holtan JP, et al. Among authors: aukrust i. Ophthalmic Genet. 2019 Apr;40(2):124-128. doi: 10.1080/13816810.2019.1586965. Epub 2019 Apr 1. Ophthalmic Genet. 2019. PMID: 30932721
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
Holtan JP, Aukrust I, Jansson RW, Berland S, Bruland O, Gjerde BL, Stokowy T, Bojovic O, Forsaa V, Austeng D, Rødahl E, Bredrup C, Knappskog PM, Bragadóttir R. Holtan JP, et al. Among authors: aukrust i. Acta Ophthalmol. 2021 Aug;99(5):e733-e746. doi: 10.1111/aos.14679. Epub 2020 Nov 30. Acta Ophthalmol. 2021. PMID: 33258285 Free article.
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Pakdaman Y, Berland S, Bustad HJ, Erdal S, Thompson BA, James PA, Power KN, Ellingsen S, Krooni M, Berge LI, Sexton A, Bindoff LA, Knappskog PM, Johansson S, Aukrust I. Pakdaman Y, et al. Among authors: aukrust i. Int J Mol Sci. 2021 May 30;22(11):5870. doi: 10.3390/ijms22115870. Int J Mol Sci. 2021. PMID: 34070858 Free PMC article.
68 results