AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.

Autor: Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Medico-Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Ramakrishnan R; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kühn NA; Department of Cell Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van der Linde HC; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lor-Zade S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Albuainain F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Shi Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Yousefi S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Capo I; Department for Histology and Embryology, Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia., van den Herik EM; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Minkelen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Geeven G; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Mulder MT; Department of Internal Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Ruijter GJG; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lütjohann D; Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn, Germany., Jacobs EH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK., Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK., De Simone L; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Schwaede A; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Kuntz N; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Palculict TB; GeneDx, Gaithersburg, MD, 20877, USA., Abbas S; Department of Biological Science, Dartmouth College, Hanover, NH, USA., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., AlMuhaizea M; Neuroscience Centre, King Faisal Specialist Hospital and Research Centre (KFSHRC), MBC: 76, Riyadh, 11211, Saudi Arabia., Colak D; Molecular Oncology Department, King Faisal Specialist Hospital and Research Centre (KFSHRC), MBC: 03, Riyadh, 11211, Saudi Arabia., AlQudairy H; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia., Alsagob M; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia.; Applied Genomics Technologies Institute, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia., Pereira C; CENTOGENE, GmbH, 18055, Rostock, Germany., Trunzo R; CENTOGENE, GmbH, 18055, Rostock, Germany., Karageorgou V; CENTOGENE, GmbH, 18055, Rostock, Germany., Bertoli-Avella AM; CENTOGENE, GmbH, 18055, Rostock, Germany., Bauer P; CENTOGENE, GmbH, 18055, Rostock, Germany., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Issa M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Gleeson JG; Departments of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, Rady Children's Institute for Genomic Medicine, San Diego, USA., Willemsen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kaya N; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia., Arold ST; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090, Montpellier, France., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.

Publikováno v: Acta neuropathologica [Acta Neuropathol] 2023 Aug; Vol. 146 (2), pp. 353-368. Date of Electronic Publication: 2023 Apr 29.