Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Autor: Colijn MA; Department of Psychiatry, University of Calgary, Calgary, AB, Canada. mark.colijn2@ucalgary.ca.; Mathison Centre for Mental Health Research and Education, University of Calgary, Calgary, AB, Canada. mark.colijn2@ucalgary.ca.; Hotchkiss Brain Institute, University of Calgary, Calgary, AB, Canada. mark.colijn2@ucalgary.ca., Vrijsen S; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, B-3000, Belgium.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network , Chevy Chase, MD, 20815, USA., Au PYB; Department of Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada., Abou El Asrar R; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, B-3000, Belgium.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network , Chevy Chase, MD, 20815, USA., Houdou M; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, B-3000, Belgium.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network , Chevy Chase, MD, 20815, USA., Van den Haute C; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network , Chevy Chase, MD, 20815, USA.; Leuven Viral Vector Core KU Leuven, Leuven, B-3000, Belgium.; Research Group for Neurobiology and Gene Therapy, Department of Neurosciences, KU Leuven, Leuven, B-3000, Belgium., Sarna J; Hotchkiss Brain Institute, University of Calgary, Calgary, AB, Canada.; Department of Clinical Neurosciences, University of Calgary, Calgary, AB, Canada., Montgomery G; Department of Psychiatry, University of Calgary, Calgary, AB, Canada., Vangheluwe P; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, B-3000, Belgium.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network , Chevy Chase, MD, 20815, USA.

Publikováno v: Neurogenetics [Neurogenetics] 2024 Oct; Vol. 25 (4), pp. 405-415. Date of Electronic Publication: 2024 Jul 18.

ATP13A3 variants promote pulmonary arterial hypertension by disrupting polyamine transport.

Autor: Liu B; Section of Cardio and Respiratory Medicine, Department of Medicine, Victor Phillip Dahdaleh Heart and Lung Research Institute, Papworth Road, Cambridge CB2 0BB, UK., Azfar M; Department of Cellular and Molecular Medicine, KU Leuven, Herestraat 49, Box 802, 3000 Leuven, Belgium., Legchenko E; Section of Cardio and Respiratory Medicine, Department of Medicine, Victor Phillip Dahdaleh Heart and Lung Research Institute, Papworth Road, Cambridge CB2 0BB, UK., West JA; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge CB2 0AW, UK.; Division of Gastroenterology and Hepatology, Department of Medicine, Hills Road, Cambridge CB2 0QQ, UK.; Department of Biochemistry and Cambridge Systems Biology Centre, University of Cambridge, Cambridge, UK., Martin S; Department of Cellular and Molecular Medicine, KU Leuven, Herestraat 49, Box 802, 3000 Leuven, Belgium., Van den Haute C; Laboratory for Neurobiology and Gene Therapy, Department of Neurosciences, KU Leuven, Herestraat 49, Box 1023, 3000 Leuven, Belgium.; Leuven Viral Vector Core, KU Leuven, Herestraat 49, Box 1023, 3000 Leuven, Belgium., Baekelandt V; Laboratory for Neurobiology and Gene Therapy, Department of Neurosciences, KU Leuven, Herestraat 49, Box 1023, 3000 Leuven, Belgium., Wharton J; Faculty of Medicine, National Heart and Lung Institute, ICTEM Building, Imperial College, Du Cane Road, London W12 0NN, UK., Howard L; Faculty of Medicine, National Heart and Lung Institute, ICTEM Building, Imperial College, Du Cane Road, London W12 0NN, UK., Wilkins MR; Faculty of Medicine, National Heart and Lung Institute, ICTEM Building, Imperial College, Du Cane Road, London W12 0NN, UK., Vangheluwe P; Department of Biochemistry and Cambridge Systems Biology Centre, University of Cambridge, Cambridge, UK., Morrell NW; Section of Cardio and Respiratory Medicine, Department of Medicine, Victor Phillip Dahdaleh Heart and Lung Research Institute, Papworth Road, Cambridge CB2 0BB, UK., Upton PD; Section of Cardio and Respiratory Medicine, Department of Medicine, Victor Phillip Dahdaleh Heart and Lung Research Institute, Papworth Road, Cambridge CB2 0BB, UK.

Publikováno v: Cardiovascular research [Cardiovasc Res] 2024 May 29; Vol. 120 (7), pp. 756-768.

The lipid flippase ATP10B enables cellular lipid uptake under stress conditions.

Autor: Wouters R; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, B-3000 Leuven, Belgium; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA., Beletchi I; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, B-3000 Leuven, Belgium., Van den Haute C; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA; Leuven Viral Vector Core, KU Leuven, B-3000 Leuven, Belgium; Research Group for Neurobiology and Gene Therapy, Department of Neurosciences, KU Leuven, B-3000 Leuven, Belgium., Baekelandt V; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA; Research Group for Neurobiology and Gene Therapy, Department of Neurosciences, KU Leuven, B-3000 Leuven, Belgium., Martin S; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, B-3000 Leuven, Belgium., Eggermont J; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, B-3000 Leuven, Belgium., Vangheluwe P; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, B-3000 Leuven, Belgium; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA. Electronic address: peter.vangheluwe@kuleuven.be.

Publikováno v: Biochimica et biophysica acta. Molecular cell research [Biochim Biophys Acta Mol Cell Res] 2024 Feb; Vol. 1871 (2), pp. 119652. Date of Electronic Publication: 2023 Dec 11.

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Urinary tract infections trigger synucleinopathy via the innate immune response.

Autor: Peelaerts W; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA.; Laboratory for Neurobiology and Gene Therapy, Department of Neurosciences, KU Leuven, Louvain, Belgium.; Laboratory for Virology and Gene Therapy, Department of Pharmacy and Pharmaceutical Sciences, KU Leuven, Louvain, Belgium., Mercado G; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., George S; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Villumsen M; Center for Clinical Research and Disease Prevention, Bispebjerg and Frederiksberg Hospital, Copenhagen, Denmark., Kasen A; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Aguileta M; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Linstow C; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Sutter AB; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.; Neuroscience Graduate Program, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Kuhn E; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Stetzik L; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Sheridan R; Flow Cytometry Core Facility, Van Andel Institute, Grand Rapids, MI, USA., Bergkvist L; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Meyerdirk L; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Lindqvist A; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Gavis MLE; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Van den Haute C; Laboratory for Neurobiology and Gene Therapy, Department of Neurosciences, KU Leuven, Louvain, Belgium.; Leuven Viral Vector Core, Department of Neurosciences, KU Leuven, Louvain, Belgium., Hultgren SJ; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA., Baekelandt V; Laboratory for Neurobiology and Gene Therapy, Department of Neurosciences, KU Leuven, Louvain, Belgium.; Leuven Viral Vector Core, Department of Neurosciences, KU Leuven, Louvain, Belgium., Pospisilik JA; Department of Epigenetics, Van Andel Institute, Grand Rapids, MI, USA., Brudek T; Centre for Neuroscience and Stereology, Bispebjerg and Frederiksberg Hospital, Copenhagen, Denmark., Aznar S; Centre for Neuroscience and Stereology, Bispebjerg and Frederiksberg Hospital, Copenhagen, Denmark., Steiner JA; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Henderson MX; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Brundin L; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA., Ivanova MI; Neuroscience Graduate Program, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Biophysics Program, University of Michigan, Ann Arbor, MI, USA., Hannan TJ; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA., Brundin P; Department of Neurodegenerative Science, Parkinson's Disease Center, Van Andel Institute, Grand Rapids, MI, USA. patrik.brundin@roche.com.; Pharma Research and Early Development (pRED), F. Hoffmann-La Roche, Basel, Switzerland. patrik.brundin@roche.com.

Publikováno v: Acta neuropathologica [Acta Neuropathol] 2023 May; Vol. 145 (5), pp. 541-559. Date of Electronic Publication: 2023 Mar 30.