Blar i Faculty of Medicine på forfatter "Pakdaman, Yasaman"
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Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish
Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik; Norton, William H.J.; Rolfsnes, Hans Olav; Bindoff, Laurence Albert; Tzoulis, Charalampos; Aukrust, Ingvild; Knappskog, Per Morten; Johansson, Stefan; Ellingsen, Ståle (Journal article; Peer reviewed, 2021-09-24)The ubiquitin ligase CHIP (C-terminus of Hsc70-interacting protein) is encoded by STUB1 and promotes ubiquitination of misfolded and damaged proteins. CHIP deficiency has been linked to several diseases, and mutations in ... -
Dysfunction of the protein quality control system in neurodegeneration: A study of the co-chaperone and ubiquitin ligase CHIP in vitro and in zebrafish
Pakdaman, Yasaman (Doctoral thesis, 2021-09-15)The C-terminus of Hsc70 interacting protein (CHIP) is a dimeric co-chaperone and E3 ubiquitin ligase encoded by the STIP1 homology and U-box containing protein 1 (STUB1) gene. As a major player in the protein quality control ... -
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16
Pakdaman, Yasaman; Berland, Siren; Bustad, Helene J.; Erdal, Sigrid; Thompson, Bryony A.; James, Paul A.; Power, Kjersti; Ellingsen, Ståle; Krooni, Martin; Berge, Line Iden; Sexton, Adrienne; Bindoff, Laurence Albert; Knappskog, Per Morten; Johansson, Stefan; Aukrust, Ingvild (Journal article; Peer reviewed, 2021)Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar ... -
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
Pakdaman, Yasaman; Sanchez Guixe, Monica; Kleppe, Rune; Erdal, Sigrid; Bustad, Helene J.; Bjørkhaug, Lise; Haugarvoll, Kristoffer; Tzoulis, Charalampos; Heimdal, Ketil Riddervold; Knappskog, Per; Johansson, Stefan; Aukrust, Ingvild (Peer reviewed; Journal article, 2017)Spinocerebellar ataxia, autosomal recessive 16 (SCAR16) is caused by biallelic mutations in the STIP1 homology and U-box containing protein 1 (STUB1) gene encoding the ubiquitin E3 ligase and dimeric co-chaperone C-terminus ... -
In-vitro characterization of STUB1 mutations in recessively inherited spinocerebellar ataxia-16
Pakdaman, Yasaman (Master thesis, 2016-05-31)Autosomal Recessive Cerebellar Ataxia (ARCA) develops as a result of inefficient protein turnover and further accumulation of damaged proteins inside the cells. Some of mutations associated with ARCA are identified in the ...