换一批AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
第一作者：
Ruizhi,Deng
第一单位：
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.
作者：
Ruizhi,Deng [1]
;
Eva,Medico-Salsench [2]
;
Anita,Nikoncuk [2]
;
Reshmi,Ramakrishnan [3]
;
Kristina,Lanko [2]
;
Nikolas A,Kühn [4]
;
Herma C,van der Linde [2]
;
Sarah,Lor-Zade [2]
;
Fatimah,Albuainain [2]
;
Yuwei,Shi [2]
;
Soheil,Yousefi [1]
;
Ivan,Capo [5]
;
Evita Medici,van den Herik [6]
;
Marjon,van Slegtenhorst [2]
;
Rick,van Minkelen [2]
;
Geert,Geeven [1]
;
Monique T,Mulder [7]
;
George J G,Ruijter [2]
;
Dieter,Lütjohann [8]
;
Edwin H,Jacobs [2]
;
Henry,Houlden [9]
;
Alistair T,Pagnamenta [10]
;
Kay,Metcalfe [11]
;
Adam,Jackson [11]
;
Siddharth,Banka [11]
;
Lenika,De Simone [12]
;
Abigail,Schwaede [12]
;
Nancy,Kuntz [12]
;
Timothy Blake,Palculict [13]
;
Safdar,Abbas [14]
;
Muhammad,Umair [15]
;
Mohammed,AlMuhaizea [16]
;
Dilek,Colak [17]
;
Hanan,AlQudairy [18]
;
Maysoon,Alsagob [19]
;
Catarina,Pereira [20]
;
Roberta,Trunzo [20]
;
Vasiliki,Karageorgou [20]
;
Aida M,Bertoli-Avella [20]
;
Peter,Bauer [20]
;
Arjan,Bouman [2]
;
Lies H,Hoefsloot [1]
;
Tjakko J,van Ham [1]
;
Mahmoud,Issa [21]
;
Maha S,Zaki [21]
;
Joseph G,Gleeson [22]
;
Rob,Willemsen [2]
;
Namik,Kaya [18]
;
Stefan T,Arold [23]
;
Reza,Maroofian [9]
;
Leslie E,Sanderson [2]
;
Tahsin Stefan,Barakat [24]
作者单位：
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.
[1]
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
[2]
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.
[3]
Department of Cell Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
[4]
Department for Histology and Embryology, Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia.
[5]
Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
[6]
Department of Internal Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
[7]
Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn, Germany.
[8]
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
[9]
NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
[10]
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.
[11]
Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.
[12]
GeneDx, Gaithersburg, MD, 20877, USA.
[13]
Department of Biological Science, Dartmouth College, Hanover, NH, USA.
[14]
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.
[15]
Neuroscience Centre, King Faisal Specialist Hospital and Research Centre (KFSHRC), MBC: 76, Riyadh, 11211, Saudi Arabia.
[16]
Molecular Oncology Department, King Faisal Specialist Hospital and Research Centre (KFSHRC), MBC: 03, Riyadh, 11211, Saudi Arabia.
[17]
Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia.
[18]
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.
[19]
CENTOGENE, GmbH, 18055, Rostock, Germany.
[20]
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
[21]
Departments of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, Rady Children's Institute for Genomic Medicine, San Diego, USA.
[22]
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.
[23]
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.
[24]
医学主题词
动物(Animals);人类(Humans);痉挛性截瘫, 遗传性(Spastic Paraplegia, Hereditary);羟甲基戊二酰基CoA还原酶抑制剂(Hydroxymethylglutaryl-CoA Reductase Inhibitors);斑马鱼(Zebrafish);突变(Mutation);运动神经元(Motor Neurons)
DOI
10.1007/s00401-023-02579-9
PMID
37119330
发布时间
2025-01-03
- 浏览1
Acta neuropathologica
Acta neuropathologica
353-368页
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