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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: bredenberg jm. Cells. 2024 Sep 13;13(18):1540. doi: 10.3390/cells13181540. Cells. 2024. PMID: 39329724 Free PMC article.
Basal activity of PINK1 and PRKN in cell models and rodent brain.
Watzlawik JO, Fiesel FC, Fiorino G, Bustillos BA, Baninameh Z, Markham BN, Hou X, Hayes CS, Bredenberg JM, Kurchaba NW, Fričová D, Siuda J, Wszolek ZK, Noda S, Sato S, Hattori N, Prasad AA, Kirik D, Fox HS, Stauch KL, Goldberg MS, Springer W. Watzlawik JO, et al. Among authors: bredenberg jm. Autophagy. 2024 May;20(5):1147-1158. doi: 10.1080/15548627.2023.2286414. Epub 2023 Dec 2. Autophagy. 2024. PMID: 38041584 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: bredenberg jm. Autophagy. 2023 Jun;19(6):1711-1732. doi: 10.1080/15548627.2022.2151294. Epub 2022 Dec 5. Autophagy. 2023. PMID: 36469690 Free PMC article.
Systematic Functional Analysis of PINK1 and PRKN Coding Variants.
Broadway BJ, Boneski PK, Bredenberg JM, Kolicheski A, Hou X, Soto-Beasley AI, Ross OA, Springer W, Fiesel FC. Broadway BJ, et al. Among authors: bredenberg jm. Cells. 2022 Aug 5;11(15):2426. doi: 10.3390/cells11152426. Cells. 2022. PMID: 35954270 Free PMC article.
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
Milanowski LM, Hou X, Bredenberg JM, Fiesel FC, Cocker LT, Soto-Beasley AI, Walton RL, Strongosky AJ, Faroqi AH, Barcikowska M, Boczarska-Jedynak M, Dulski J, Fedoryshyn L, Janik P, Potulska-Chromik A, Karpinsky K, Krygowska-Wajs A, Lynch T, Olszewska DA, Opala G, Pulyk A, Rektorova I, Sanotsky Y, Siuda J, Widlak M, Slawek J, Rudzinska-Bar M, Uitti R, Figura M, Szlufik S, Rzonca-Niewczas S, Podgorska E, McLean PJ, Koziorowski D, Ross OA, Hoffman-Zacharska D, Springer W, Wszolek ZK. Milanowski LM, et al. Among authors: bredenberg jm. Int J Mol Sci. 2022 Jun 25;23(13):7086. doi: 10.3390/ijms23137086. Int J Mol Sci. 2022. PMID: 35806091 Free PMC article.
ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans.
Conway OJ, Carrasquillo MM, Wang X, Bredenberg JM, Reddy JS, Strickland SL, Younkin CS, Burgess JD, Allen M, Lincoln SJ, Nguyen T, Malphrus KG, Soto AI, Walton RL, Boeve BF, Petersen RC, Lucas JA, Ferman TJ, Cheshire WP, van Gerpen JA, Uitti RJ, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Ertekin-Taner N. Conway OJ, et al. Among authors: bredenberg jm. Mol Neurodegener. 2018 Oct 11;13(1):53. doi: 10.1186/s13024-018-0289-x. Mol Neurodegener. 2018. PMID: 30326945 Free PMC article.