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Page 1
Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W.
Bustillos BA, Cocker LT, Coban MA, Weber CA, Bredenberg JM, Boneski PK, Siuda J, Slawek J, Puschmann A, Narendra DP, Graff-Radford NR, Wszolek ZK, Dickson DW, Ross OA, Caulfield TR, Springer W, Fiesel FC. Bustillos BA, et al. Among authors: caulfield tr. Cells. 2024 Sep 13;13(18):1540. doi: 10.3390/cells13181540. Cells. 2024. PMID: 39329724 Free PMC article.
Activation of the E3 ubiquitin ligase Parkin.
Caulfield TR, Fiesel FC, Springer W. Caulfield TR, et al. Biochem Soc Trans. 2015 Apr;43(2):269-74. doi: 10.1042/BST20140321. Biochem Soc Trans. 2015. PMID: 25849928 Free PMC article. Review.
(Patho-)physiological relevance of PINK1-dependent ubiquitin phosphorylation.
Fiesel FC, Ando M, Hudec R, Hill AR, Castanedes-Casey M, Caulfield TR, Moussaud-Lamodière EL, Stankowski JN, Bauer PO, Lorenzo-Betancor O, Ferrer I, Arbelo JM, Siuda J, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Dickson DW, Springer W. Fiesel FC, et al. Among authors: caulfield tr. EMBO Rep. 2015 Sep;16(9):1114-30. doi: 10.15252/embr.201540514. Epub 2015 Jul 10. EMBO Rep. 2015. PMID: 26162776 Free PMC article.
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.
Substitution of PINK1 Gly411 modulates substrate receptivity and turnover.
Fiesel FC, Fričová D, Hayes CS, Coban MA, Hudec R, Bredenberg JM, Broadway BJ, Markham BN, Yan T, Boneski PK, Fiorino G, Watzlawik JO, Hou X, McCarty AM, Lewis-Tuffin LJ, Zhong J, Madden BJ, Ordureau A, An H, Puschmann A, Wszolek ZK, Ross OA, Harper JW, Caulfield TR, Springer W. Fiesel FC, et al. Among authors: caulfield tr. Autophagy. 2023 Jun;19(6):1711-1732. doi: 10.1080/15548627.2022.2151294. Epub 2022 Dec 5. Autophagy. 2023. PMID: 36469690 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.
85 results