Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W.

Autor: Bustillos BA; Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA., Cocker LT; Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA., Coban MA; Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA., Weber CA; Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA., Bredenberg JM; Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA., Boneski PK; Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA., Siuda J; Department of Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland., Slawek J; Department of Neurology, St. Adalbert Hospital, 80-462 Gdansk, Poland.; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, 80-210 Gdansk, Poland., Puschmann A; Department of Clinical Sciences, Neurology, Lund University, 22100 Lund, Sweden.; Department of Neurology, Skane University Hospital, 22185 Lund, Sweden., Narendra DP; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD 20892, USA., Graff-Radford NR; Mayo Clinic, Department of Neurology, Jacksonville, FL 32224, USA., Wszolek ZK; Mayo Clinic, Graduate School of Biomedical, Sciences Neuroscience PhD Program, Jacksonville, FL 32224, USA., Dickson DW; Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.; Mayo Clinic, Graduate School of Biomedical, Sciences Neuroscience PhD Program, Jacksonville, FL 32224, USA., Ross OA; Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.; Mayo Clinic, Graduate School of Biomedical, Sciences Neuroscience PhD Program, Jacksonville, FL 32224, USA., Caulfield TR; Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.; Mayo Clinic, Department of Neurosurgery, Jacksonville, FL 32224, USA.; Mayo Clinic, Department of Cancer Biology, Jacksonville, FL 32224, USA.; Mayo Clinic, Department of Biochemistry & Molecular Biology, Jacksonville, FL 32224, USA.; Mayo Clinic, Department of Computational Biology, Jacksonville, FL 32224, USA., Springer W; Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.; Mayo Clinic, Graduate School of Biomedical, Sciences Neuroscience PhD Program, Jacksonville, FL 32224, USA., Fiesel FC; Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.; Mayo Clinic, Graduate School of Biomedical, Sciences Neuroscience PhD Program, Jacksonville, FL 32224, USA.

Publikováno v: Cells [Cells] 2024 Sep 13; Vol. 13 (18). Date of Electronic Publication: 2024 Sep 13.

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Autor: Milanowski LM; Department of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland., Hou X; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Bredenberg JM; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Fiesel FC; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Neuroscience PhD Program, Mayo Graduate School, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Cocker LT; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Soto-Beasley AI; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Walton RL; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Strongosky AJ; Department of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Faroqi AH; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Neuroscience PhD Program, Mayo Graduate School, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Barcikowska M; Clinical Department of Neurology, Extrapyramidal Disorders and Alzheimer's Outpatient Clinic, Central Clinical Hospital of the Ministry of the Interior and Administration in Warsaw, 02-507 Warsaw, Poland., Boczarska-Jedynak M; Department of Neurology and Restorative Medicine, Health Institute dr Boczarska-Jedynak, 32-600 Oswiecim, Poland., Dulski J; Department of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Department of Neurology, St. Adalbert Hospital, Copernicus PL Ltd., 80-462 Gdansk, Poland.; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, 80-210 Gdansk, Poland., Fedoryshyn L; Lviv Regional Clinical Hospital, 79010 Lviv, Ukraine., Janik P; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland., Potulska-Chromik A; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland., Karpinsky K; Uzhhorod Regional Clinical Centre of Neurosurgery and Neurology, 88018 Uzhhorod, Ukraine., Krygowska-Wajs A; Department of Neurology, Jagiellonian University Medical College, 31-008 Krakow, Poland., Lynch T; The Dublin Neurological Institute, Mater Misericordiae University Hospital, D07 W7XF Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, D04 V1W8 Dublin, Ireland., Olszewska DA; The Dublin Neurological Institute, Mater Misericordiae University Hospital, D07 W7XF Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, D04 V1W8 Dublin, Ireland.; Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, ON M5T 2S8, Canada., Opala G; Department of Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland., Pulyk A; Uzhhorod National University, 88-000 Uzhhorod, Ukraine., Rektorova I; Applied Neuroscience Research Group, Central European Institute of Technology, CEITEC MU, Masaryk University, 601-77 Brno, Czech Republic.; St. Anne's University Hospital and Faculty of Medicine, Masaryk University, 601-77 Brno, Czech Republic., Sanotsky Y; Lviv Regional Clinical Hospital, 79010 Lviv, Ukraine., Siuda J; Department of Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland., Widlak M; Bielanski Hospital, 01-809 Warsaw, Poland., Slawek J; Department of Neurology, St. Adalbert Hospital, Copernicus PL Ltd., 80-462 Gdansk, Poland.; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, 80-210 Gdansk, Poland., Rudzinska-Bar M; Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, 30-705 Cracow, Poland., Uitti R; Department of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Figura M; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland., Szlufik S; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland., Rzonca-Niewczas S; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Podgorska E; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 00-927 Warsaw, Poland., McLean PJ; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Neuroscience PhD Program, Mayo Graduate School, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Koziorowski D; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland., Ross OA; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Neuroscience PhD Program, Mayo Graduate School, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; School of Medicine and Medical Science, University College Dublin, D04 V1W8 Dublin, Ireland.; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 00-927 Warsaw, Poland., Springer W; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Neuroscience PhD Program, Mayo Graduate School, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Wszolek ZK; Department of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2022 Jun 25; Vol. 23 (13). Date of Electronic Publication: 2022 Jun 25.