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Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma.
Exp Eye Res. 2022 Nov;224:109211. doi: 10.1016/j.exer.2022.109211. Epub 2022 Aug 17.
Exp Eye Res. 2022.
PMID: 35985532
Implications of specific lysine residues within ataxin-3 for the molecular pathogenesis of Machado-Joseph disease.
Pereira Sena P, Weber JJ, Bayezit S, Saup R, Incebacak Eltemur RD, Li X, Velic A, Jung J, Macek B, Nguyen HP, Riess O, Schmidt T.
Pereira Sena P, et al.
Front Mol Neurosci. 2023 May 19;16:1133271. doi: 10.3389/fnmol.2023.1133271. eCollection 2023.
Front Mol Neurosci. 2023.
PMID: 37273907
Free PMC article.
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Killing Two Angry Birds with One Stone: Autophagy Activation by Inhibiting Calpains in Neurodegenerative Diseases and Beyond.
Weber JJ, Pereira Sena P, Singer E, Nguyen HP.
Weber JJ, et al. Among authors: pereira sena p.
Biomed Res Int. 2019 Feb 14;2019:4741252. doi: 10.1155/2019/4741252. eCollection 2019.
Biomed Res Int. 2019.
PMID: 30895192
Free PMC article.
Review.
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Neurodegenerative phosphoprotein signaling landscape in models of SCA3.
Sowa AS, Popova TG, Harmuth T, Weber JJ, Pereira Sena P, Schmidt J, Hübener-Schmid J, Schmidt T.
Sowa AS, et al. Among authors: pereira sena p.
Mol Brain. 2021 Mar 19;14(1):57. doi: 10.1186/s13041-020-00723-0.
Mol Brain. 2021.
PMID: 33741019
Free PMC article.
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Pathophysiological interplay between O-GlcNAc transferase and the Machado-Joseph disease protein ataxin-3.
Pereira Sena P, Weber JJ, Watchon M, Robinson KJ, Wassouf Z, Hauser S, Helm J, Abeditashi M, Schmidt J, Hübener-Schmid J, Schöls L, Laird AS, Riess O, Schmidt T.
Pereira Sena P, et al.
Proc Natl Acad Sci U S A. 2021 Nov 23;118(47):e2025810118. doi: 10.1073/pnas.2025810118.
Proc Natl Acad Sci U S A. 2021.
PMID: 34785590
Free PMC article.
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Calpains as novel players in the molecular pathogenesis of spinocerebellar ataxia type 17.
Weber JJ, Anger SC, Pereira Sena P, Incebacak Eltemur RD, Huridou C, Fath F, Gross C, Casadei N, Riess O, Nguyen HP.
Weber JJ, et al. Among authors: pereira sena p.
Cell Mol Life Sci. 2022 Apr 28;79(5):262. doi: 10.1007/s00018-022-04274-6.
Cell Mol Life Sci. 2022.
PMID: 35482253
Free PMC article.
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KPNB1 modulates the Machado-Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP.
Abeditashi M, Weber JJ, Pereira Sena P, Velic A, Kalimeri M, Incebacak Eltemur RD, Schmidt J, Hübener-Schmid J, Hauser S, Macek B, Riess O, Schmidt T.
Abeditashi M, et al. Among authors: pereira sena p.
Cell Mol Life Sci. 2022 Jul 6;79(8):401. doi: 10.1007/s00018-022-04372-5.
Cell Mol Life Sci. 2022.
PMID: 35794401
Free PMC article.
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