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机译:Ngly1 Ngly1中的变体导致智力残疾,肌阵挛性癫痫,感觉运动轴突性多功能障碍和线粒体功能障碍
Radboud Center for Mitochondrial Medicine Department of PediatricsAmalia Children's;
Radboud Center for Mitochondrial Medicine Department of PediatricsAmalia Children's;
Department of Neurology Donders Institute for BrainCognition and BehaviourNijmegen the Netherlands;
Department of Metabolic Diseases Wilhelmina Children's Hospital UtrechtUniversity Medical Center;
Department of Child Neurology Emma Children's Hospital Amsterdam UMC ‐ Locatie VUMC and Amsterdam;
Department of Clinical GeneticsAmsterdam UMC ‐ Locatie VUMCAmsterdam the Netherlands;
Department of PathologyRadboudumcNijmegen the Netherlands;
Radboud Institute for Molecular Life Sciences RadboudumcNijmegen the Netherlands;
Radboud Institute for Molecular Life Sciences RadboudumcNijmegen the Netherlands;
Radboud Institute for Molecular Life Sciences RadboudumcNijmegen the Netherlands;
Translational Metabolic Laboratory Department of Laboratory MedicineRadboudumcNijmegen the;
Translational Metabolic Laboratory Department of Laboratory MedicineRadboudumcNijmegen the;
Radboud Center for Mitochondrial Medicine Department of PediatricsAmalia Children's;
Department of Neurology Donders Institute for BrainCognition and BehaviourNijmegen the Netherlands;
Radboud Center for Mitochondrial Medicine Department of PediatricsAmalia Children's;
Radboud Center for Mitochondrial Medicine Department of PediatricsAmalia Children's;
mitochondrial disorders; NGLY1; OXPHOS enzyme activity; Seahorse respirometry; Whole exome sequencing;
机译:Ngly1 Ngly1中的变体导致智力残疾,肌阵挛性癫痫,感觉运动轴突性多功能障碍和线粒体功能障碍
机译:N-聚糖酶NGLY1通过NRF1调节线粒体稳态和炎症
机译:线粒体功能需要ngly1
机译:蛋氨酸亚砜还原酶缺乏会导致果蝇的线粒体功能障碍。
机译:NGLY1突变导致神经运动障碍智力障碍和神经病
机译:N-甘油酶Ngly1通过NRF1调节线粒体稳态和炎症