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Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo.
Cheng F, Zheng W, Liu C, Barbuti PA, Yu-Taeger L, Casadei N, Huebener-Schmid J, Admard J, Boldt K, Junger K, Ueffing M, Houlden H, Sharma M, Kruger R, Grundmann-Hauser K, Ott T, Riess O. Cheng F, et al. Among authors: barbuti pa. Sci Adv. 2022 Nov 25;8(47):eabq6324. doi: 10.1126/sciadv.abq6324. Epub 2022 Nov 23. Sci Adv. 2022. PMID: 36417521 Free PMC article.
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
Cheng F, Zheng W, Barbuti PA, Bonsi P, Liu C, Casadei N, Ponterio G, Meringolo M, Admard J, Dording CM, Yu-Taeger L, Nguyen HP, Grundmann-Hauser K, Ott T, Houlden H, Pisani A, Krüger R, Riess O. Cheng F, et al. Among authors: barbuti pa. Brain. 2022 Nov 21;145(11):3968-3984. doi: 10.1093/brain/awac001. Brain. 2022. PMID: 35015830
Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.
Cheng F, Walter M, Wassouf Z, Hentrich T, Casadei N, Schulze-Hentrich J, Barbuti P, Krueger R, Riess O, Grundmann-Hauser K, Ott T. Cheng F, et al. J Mol Neurosci. 2020 Jul;70(7):999-1008. doi: 10.1007/s12031-020-01490-2. Epub 2020 Feb 28. J Mol Neurosci. 2020. PMID: 32112337 Free PMC article.
Mitochondria interaction networks show altered topological patterns in Parkinson's disease.
Zanin M, Santos BFR, Antony PMA, Berenguer-Escuder C, Larsen SB, Hanss Z, Barbuti PA, Baumuratov AS, Grossmann D, Capelle CM, Weber J, Balling R, Ollert M, Krüger R, Diederich NJ, He FQ. Zanin M, et al. Among authors: barbuti pa. NPJ Syst Biol Appl. 2020 Nov 10;6(1):38. doi: 10.1038/s41540-020-00156-4. NPJ Syst Biol Appl. 2020. PMID: 33173039 Free PMC article.
Retromer dysfunction in amyotrophic lateral sclerosis.
Pérez-Torres EJ, Utkina-Sosunova I, Mishra V, Barbuti P, De Planell-Saguer M, Dermentzaki G, Geiger H, Basile AO, Robine N, Fagegaltier D, Politi KA, Rinchetti P, Jackson-Lewis V; NYGC ALS Consortium; Harms M, Phatnani H, Lotti F, Przedborski S. Pérez-Torres EJ, et al. Proc Natl Acad Sci U S A. 2022 Jun 28;119(26):e2118755119. doi: 10.1073/pnas.2118755119. Epub 2022 Jun 24. Proc Natl Acad Sci U S A. 2022. PMID: 35749364 Free PMC article.
15 results