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1.	Bott, LC, et al. (author) A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy 2016 In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 25:10, s. 1979-1989 Journal article (peer-reviewed)
2.	Bott, LC, et al. (author) The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/C(Cdh1) ubiquitin ligase complex 2016 In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6, s. 27703- Journal article (peer-reviewed)abstract Polyglutamine expansion in the androgen receptor (AR) causes spinal and bulbar muscular atrophy (SBMA), an X-linked neuromuscular disease that is fully manifest only in males. It has been suggested that proteins with expanded polyglutamine tracts impair ubiquitin-dependent proteolysis due to their propensity to aggregate, but recent studies indicate that the overall activity of the ubiquitin-proteasome system is preserved in SBMA models. Here we report that AR selectively interferes with the function of the ubiquitin ligase anaphase-promoting complex/cyclosome (APC/C), which, together with its substrate adaptor Cdh1, is critical for cell cycle arrest and neuronal architecture. We show that both wild-type and mutant AR physically interact with the APC/CCdh1 complex in a ligand-dependent fashion without being targeted for proteasomal degradation. Inhibition of APC/CCdh1 by mutant but not wild-type AR in PC12 cells results in enhanced neurite outgrowth which is typically followed by rapid neurite retraction and mitotic entry. Our data indicate a role of AR in neuronal differentiation through regulation of APC/CCdh1 and suggest abnormal cell cycle reactivation as a pathogenic mechanism in SBMA.
3.	Grunseich, C, et al. (author) Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat 2014 In: Neuromuscular disorders : NMD. - : Elsevier BV. - 1873-2364 .- 0960-8966. ; 24:11, s. 978-981 Journal article (peer-reviewed)
4.	Grunseich, C, et al. (author) Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients 2014 In: Neurobiology of disease. - : Elsevier BV. - 1095-953X .- 0969-9961. ; 70, s. 12-20 Journal article (peer-reviewed)
5.	Pourshafie, N, et al. (author) MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy 2016 In: Molecular therapy : the journal of the American Society of Gene Therapy. - : Elsevier BV. - 1525-0024. ; 24:5, s. 937-945 Journal article (peer-reviewed)
6.	Rinaldi, C, et al. (author) Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy 2012 In: Molecular medicine (Cambridge, Mass.). - : Springer Science and Business Media LLC. - 1528-3658 .- 1076-1551. ; 18:9, s. 1261-1268 Journal article (peer-reviewed)
7.	Rinaldi, C, et al. (author) Muscle matters in Kennedy's disease 2014 In: Neuron. - : Elsevier BV. - 1097-4199 .- 0896-6273. ; 82:2, s. 251-253 Journal article (peer-reviewed)
8.	Rinaldi, C, et al. (author) Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia 2015 In: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 72:5, s. 561-570 Journal article (peer-reviewed)

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Type of publication: journal article (8)

Type of content: peer-reviewed (8)

Author/Editor: Bott, LC (8); Fischbeck, KH (8); Rinaldi, C (7); Chen, KL (6); Harmison, GG (4); Katsuno, M (3); show more...; Sobue, G (3); Grunseich, C (3); Dantuma, NP (2); Lee, PR (2); Kats, IR (2); Taylor, JP (1); Schmidt, T. (1); Fox, D. (1); Salomons, FA (1); Traynor, BJ (1); Liu, CY (1); Fadó, R (1); Boehm, M (1); Brice, A (1); Badders, NM (1); Bautista, E (1); Shih, CCY (1); Maric, D (1); Liu, YH (1); Merry, D (1); Durr, A. (1); Chen, GB (1); Biesecker, LG (1); Parodi, S (1); De Michele, G (1); Filla, A (1); Kokkinis, A (1); Schindler, AB (1); Mankodi, AK (1); Shrader, JA (1); Schwartz, DP (1); Lehky, TJ (1); Zukosky, K (1); Ghosh, L (1); Stevanin, G (1); Pennuto, M (1); Pourshafie, N (1); Burnett, BG (1); Situ, AJ (1); Johnson, JO (1); Harmison, GH (1); Renvoise, B (1); Santorelli, FM (1); Casals, N (1); show less...

University: Karolinska Institutet (8)

Language: English (8)

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