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Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish.
Front Mol Neurosci. 2021 Sep 24;14:723912. doi: 10.3389/fnmol.2021.723912. eCollection 2021.
Front Mol Neurosci. 2021.
PMID: 34630034
Free PMC 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.
Int J Mol Sci. 2021 May 30;22(11):5870. doi: 10.3390/ijms22115870.
Int J Mol Sci. 2021.
PMID: 34070858
Free PMC article.
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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.
Biosci Rep. 2017 Apr 28;37(2):BSR20170251. doi: 10.1042/BSR20170251. Print 2017 Apr 30.
Biosci Rep. 2017.
PMID: 28396517
Free PMC article.
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