Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.

Autor: Muñoz-Oreja M; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastian, Spain.; University of the Basque Country-Bizkaia Campus, 48940 Bilbao, Spain.; CIBERNED (Center for Networked Biomedical Research on Neurodegenerative Diseases, Ministry of Economy and Competitiveness, Institute Carlos III), 28031 Madrid, Spain., Sandoval A; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Bruland O; Department of Medical Genetics, Haukeland University Hospital, Bergen 5021, Norway., Perez-Rodriguez D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London NW3 2PF, UK., Fernandez-Pelayo U; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastian, Spain., de Arbina AL; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastian, Spain., Villar-Fernandez M; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastian, Spain., Hernández-Eguiazu H; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastian, Spain., Hernández I; University of the Basque Country-Bizkaia Campus, 48940 Bilbao, Spain., Park Y; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Goicoechea L; Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB), CSIC, 08036 Barcelona, Spain.; Liver Unit, Hospital Clinic i Provincial de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red (CIBEREHD), 08036 Barcelona, Spain., Pascual-Frías N; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastian, Spain.; Center for Cooperative Research in Biomaterials (CIC BiomaGUNE), Basque Research and Technology Alliance (BRTA), 20014 San Sebastian, Spain., Garcia-Ruiz C; Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB), CSIC, 08036 Barcelona, Spain.; Liver Unit, Hospital Clinic i Provincial de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red (CIBEREHD), 08036 Barcelona, Spain., Fernandez-Checa J; Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB), CSIC, 08036 Barcelona, Spain.; Liver Unit, Hospital Clinic i Provincial de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red (CIBEREHD), 08036 Barcelona, Spain.; Research Center for ALPD, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA., Martí-Carrera I; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastian, Spain.; University of the Basque Country-Bizkaia Campus, 48940 Bilbao, Spain.; CIBERNED (Center for Networked Biomedical Research on Neurodegenerative Diseases, Ministry of Economy and Competitiveness, Institute Carlos III), 28031 Madrid, Spain.; Pediatric Neurology, Hospital Universitario Donostia, 20014 San Sebastián, Spain., Gil-Bea FJ; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastian, Spain., Hasan MT; Laboratory of Brain Circuits Therapeutics, Achucarro Basque Center for Neuroscience, Barrio Sarriena, s/n, E-48940 Leioa, Spain.; IKERBASQUE, Basque Foundation for Science, 48013 Bilbao, Spain., Gegg ME; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London NW3 2PF, UK., Bredrup C; Department of Ophthalmology, Haukeland University Hospital, Bergen 5021, Norway.; Department of Clinical Medicine (K1), University of Bergen, Bergen 5020, Norway., Knappskog PM; Department of Clinical Science (K2), University of Bergen, Bergen 5020, Norway., Gereñu-Lopetegui G; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastian, Spain.; University of the Basque Country-Bizkaia Campus, 48940 Bilbao, Spain.; CIBERNED (Center for Networked Biomedical Research on Neurodegenerative Diseases, Ministry of Economy and Competitiveness, Institute Carlos III), 28031 Madrid, Spain.; IKERBASQUE, Basque Foundation for Science, 48013 Bilbao, Spain., Varhaug KN; Department of Clinical Medicine (K1), University of Bergen, Bergen 5020, Norway.; Department of Neurology, Haukeland University Hospital, Bergen 5021, Norway., Bindoff LA; Department of Ophthalmology, Haukeland University Hospital, Bergen 5021, Norway.; Department of Clinical Medicine (K1), University of Bergen, Bergen 5020, Norway.; Department of Neurology, Haukeland University Hospital, Bergen 5021, Norway., Spinazzola A; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London NW3 2PF, UK., Yoon WH; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Holt IJ; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastian, Spain.; University of the Basque Country-Bizkaia Campus, 48940 Bilbao, Spain.; CIBERNED (Center for Networked Biomedical Research on Neurodegenerative Diseases, Ministry of Economy and Competitiveness, Institute Carlos III), 28031 Madrid, Spain.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London NW3 2PF, UK.; IKERBASQUE, Basque Foundation for Science, 48013 Bilbao, Spain.

Publikováno v: Brain : a journal of neurology [Brain] 2024 May 03; Vol. 147 (5), pp. 1899-1913.