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The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity.
Ando M, Fiesel FC, Hudec R, Caulfield TR, Ogaki K, Górka-Skoczylas P, Koziorowski D, Friedman A, Chen L, Dawson VL, Dawson TM, Bu G, Ross OA, Wszolek ZK, Springer W. Ando M, et al. Among authors: caulfield tr. Mol Neurodegener. 2017 Apr 24;12(1):32. doi: 10.1186/s13024-017-0174-z. Mol Neurodegener. 2017. PMID: 28438176 Free PMC article.
APOE3-Jacksonville (V236E) variant reduces self-aggregation and risk of dementia.
Liu CC, Murray ME, Li X, Zhao N, Wang N, Heckman MG, Shue F, Martens Y, Li Y, Raulin AC, Rosenberg CL, Doss SV, Zhao J, Wren MC, Jia L, Ren Y, Ikezu TC, Lu W, Fu Y, Caulfield T, Trottier ZA, Knight J, Chen Y, Linares C, Wang X, Kurti A, Asmann YW, Wszolek ZK, Smith GE, Vemuri P, Kantarci K, Knopman DS, Lowe VJ, Jack CR Jr, Parisi JE, Ferman TJ, Boeve BF, Graff-Radford NR, Petersen RC, Younkin SG, Fryer JD, Wang H, Han X, Frieden C, Dickson DW, Ross OA, Bu G. Liu CC, et al. Sci Transl Med. 2021 Sep 29;13(613):eabc9375. doi: 10.1126/scitranslmed.abc9375. Epub 2021 Sep 29. Sci Transl Med. 2021. PMID: 34586832 Free PMC article.
Modeling Lewy body disease with SNCA triplication iPSC-derived cortical organoids and identifying therapeutic drugs.
Jin Y, Li F, Li Z, Ikezu TC, O'Leary J, Selvaraj M, Zhu Y, Martens YA, Koga S, Santhakumar H, Li Y, Lu W, You Y, Lolo K, DeTure M, Beasley AI, Davis MD, McLean PJ, Ross OA, Kanekiyo T, Ikezu T, Caulfield T, Carr J, Wszolek ZK, Bu G, Dickson DW, Zhao N. Jin Y, et al. Sci Adv. 2024 Sep 13;10(37):eadk3700. doi: 10.1126/sciadv.adk3700. Epub 2024 Sep 11. Sci Adv. 2024. PMID: 39259788 Free PMC article.
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzińska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W. Puschmann A, et al. Among authors: caulfield tr. Brain. 2017 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Brain. 2017. PMID: 27807026 Free PMC article.
90 results