ArticleInternational journal of molecular sciences2022
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
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Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11citing papers in PubMed
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11 citing papers in PubMed, 16 citations in OpenAlex.
- Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Recombinant cathepsins B and L promote α-synuclein clearance and restore lysosomal function in human and murine models with α-synuclein pathology.Molecular neurodegeneration · 2025Article
- Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes.Annals of clinical and translational neurology · 2025Article
- Genetic Insights Into the Role of Cathepsins in Alzheimer's Disease, Parkinson's Disease, and Amyotrophic Lateral Sclerosis: Evidence From Mendelian Randomization Study.Brain and behavior · 2025Article
- Exploring the Association between Cathepsin B and Parkinson's Disease.Brain sciences · 2024Article
- Cathepsin-mediated regulation of alpha-synuclein in Parkinson's disease: a Mendelian randomization study.Frontiers in aging neuroscience · 2024Article
- Cathepsins and Parkinson's disease: insights from Mendelian randomization analyses.Frontiers in aging neuroscience · 2024Article
- Cathepsins and neurological diseases: a Mendelian randomization study.Frontiers in neuroscience · 2024Article
- Article
- The Role of Cysteine Protease Cathepsins B, H, C, and X/Z in Neurodegenerative Diseases and Cancer.International journal of molecular sciences · 2023Review
- A proteogenomic view of Parkinson's disease causality and heterogeneity.NPJ Parkinson's disease · 2023Article
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Authors and funding
38 authors at 12 institutions in 6 countries.
Lukasz M MilanowskiDepartment of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
Xu HouDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.ORCID 0000-0003-3011-4378
Jenny M BredenbergDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
Fabienne C FieselDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.ORCID 0000-0002-1919-9676
Liam T CockerDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
Alexandra I Soto-BeasleyDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
Ronald L WaltonDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
Audrey J StrongoskyDepartment of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
Ayman H FaroqiDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.ORCID 0000-0002-1659-753X
Maria BarcikowskaClinical 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.
Magdalena Boczarska-JedynakDepartment of Neurology and Restorative Medicine, Health Institute dr Boczarska-Jedynak, 32-600 Oswiecim, Poland.
Jaroslaw DulskiDepartment of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA.ORCID 0000-0002-5517-9875
Lyuda FedoryshynLviv Regional Clinical Hospital, 79010 Lviv, Ukraine.
Piotr JanikDepartment of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.
Anna Potulska-ChromikDepartment of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.
Katherine KarpinskyUzhhorod Regional Clinical Centre of Neurosurgery and Neurology, 88018 Uzhhorod, Ukraine.
Anna Krygowska-WajsDepartment of Neurology, Jagiellonian University Medical College, 31-008 Krakow, Poland.
Tim LynchThe Dublin Neurological Institute, Mater Misericordiae University Hospital, D07 W7XF Dublin, Ireland.
Diana A OlszewskaThe Dublin Neurological Institute, Mater Misericordiae University Hospital, D07 W7XF Dublin, Ireland.
Grzegorz OpalaDepartment of Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland.
Aleksander PulykUzhhorod National University, 88-000 Uzhhorod, Ukraine.
Irena RektorovaApplied Neuroscience Research Group, Central European Institute of Technology, CEITEC MU, Masaryk University, 601-77 Brno, Czech Republic.
Yanosh SanotskyLviv Regional Clinical Hospital, 79010 Lviv, Ukraine.
Joanna SiudaDepartment of Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland.ORCID 0000-0002-0340-660X
Mariusz WidlakBielanski Hospital, 01-809 Warsaw, Poland.
Jaroslaw SlawekDepartment of Neurology, St. Adalbert Hospital, Copernicus PL Ltd., 80-462 Gdansk, Poland.
Monika Rudzinska-BarFaculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, 30-705 Cracow, Poland.ORCID 0000-0002-1453-6856
Ryan UittiDepartment of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
Monika FiguraDepartment of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.
Stanislaw SzlufikDepartment of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.
Sylwia Rzonca-NiewczasDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.ORCID 0000-0002-7372-2472
Elzbieta PodgorskaInstitute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 00-927 Warsaw, Poland.ORCID 0000-0003-0405-9299
Pamela J McLeanDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
Dariusz KoziorowskiDepartment of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.ORCID 0000-0001-8920-8024
Owen A RossDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
Dorota Hoffman-ZacharskaDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.ORCID 0000-0001-7367-512X
Wolfdieter SpringerDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA.ORCID 0000-0002-1178-3149
Zbigniew K WszolekDepartment of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA.ORCID 0000-0001-5487-1053
Mayo Clinic in Florida · USMedical University of Warsaw · PLWinnMed · USUniversity College Dublin · IECopernicus Memorial Hospital · PLMedical University of Silesia · PLUniversity of Warsaw · PLUzhhorod National University · UAAndrzej Frycz Modrzewski Krakow University · PLCentral Clinical Hospital · PLCentral European Institute of Technology · CZJagiellonian University · PL
Funding
Technology and Remote Assessment CoreU19AG063911 · NIA · MAYO CLINIC ROCHESTER · PI WILLIAM W SEELEY · 2019 to 2026
$120.9MUtilization of proteomics and lipidomics to identify modifiers of LBDU54NS110435 · NINDS · MAYO CLINIC JACKSONVILLE · PI MCLEAN, PAMELA J · 2019 to 2023
$14.5MMolecular mechanisms of PINK1-PRKN directed mitochondrial quality controlRF1NS085070 · NINDS · MAYO CLINIC JACKSONVILLE · PI SPRINGER, WOLFDIETER · 2019 to 2019
$2.8MMitochondrial Sirtuin 3 in Parkinson's diseaseR01NS110085 · NINDS · MAYO CLINIC JACKSONVILLE · PI MCLEAN, PAMELA J, SPRINGER, WOLFDIETER · 2019 to 2023
$2.5MMolecular mechanisms of Parkin-directed mitochondrial quality controlR01NS085070 · NINDS · MAYO CLINIC JACKSONVILLE · PI SPRINGER, WOLFDIETER · 2014 to 2018
$1.7MSelective autophagy in Alzheimer's disease and related dementiasR56AG062556 · NIA · MAYO CLINIC JACKSONVILLE · PI FRYER, JOHN DAVID, SPRINGER, WOLFDIETER · 2019 to 2019
$782kNIA NIH HHS R56 AG062556NIA NIH HHS U19 AG063911NIH HHS 1U19AG063911NINDS NIH HHS R01 NS085070NINDS NIH HHS R01 NS110085NINDS NIH HHS RF1 NS085070NINDS NIH HHS U54 NS110435
Abstract
Parkinson's disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the role of mutations in Cathepsin B
Indexed as
Parkinson DiseaseCathepsin BGenotypeHeterozygoteHumansPenetranceCathepsin BCTSB protein, humanCTSBfamilial formsfibroblastsmonogenic formsParkinson’s disease
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.