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The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.
Alves S, Cormier-Dequaire F, Marinello M, Marais T, Muriel MP, Beaumatin F, Charbonnier-Beaupel F, Tahiri K, Seilhean D, El Hachimi K, Ruberg M, Stevanin G, Barkats M, den Dunnen W, Priault M, Brice A, Durr A, Corvol JC, Sittler A. Alves S, et al. Among authors: den dunnen w. Acta Neuropathol. 2014 Nov;128(5):705-22. doi: 10.1007/s00401-014-1289-8. Epub 2014 May 24. Acta Neuropathol. 2014. PMID: 24859968
Restoring brain cholesterol turnover improves autophagy and has therapeutic potential in mouse models of spinocerebellar ataxia.
Nóbrega C, Mendonça L, Marcelo A, Lamazière A, Tomé S, Despres G, Matos CA, Mechmet F, Langui D, den Dunnen W, de Almeida LP, Cartier N, Alves S. Nóbrega C, et al. Among authors: den dunnen w. Acta Neuropathol. 2019 Nov;138(5):837-858. doi: 10.1007/s00401-019-02019-7. Epub 2019 Jun 14. Acta Neuropathol. 2019. PMID: 31197505
Axonal inclusions in spinocerebellar ataxia type 3.
Seidel K, den Dunnen WF, Schultz C, Paulson H, Frank S, de Vos RA, Brunt ER, Deller T, Kampinga HH, Rüb U. Seidel K, et al. Acta Neuropathol. 2010 Oct;120(4):449-60. doi: 10.1007/s00401-010-0717-7. Epub 2010 Jul 16. Acta Neuropathol. 2010. PMID: 20635090 Free PMC article.
187 results