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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease
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Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease

机译：亚型的Notch 3等位基因将Notch信号与缺血性脑小血管疾病联系起来

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摘要

The most common hereditary cause of small-vessel disease leading to ischemic stroke and vascular dementia is the neurodegenerative syndrome cerebral autosomal dominant arterio-pathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is associated with mutations in the Notch 3 receptor, a cell surface protein implicated in a fundamental cell signaling pathway involved in development.
机译：导致缺血性中风和血管性痴呆的小血管疾病最常见的遗传病因是神经退行性综合征，脑常染色体显性动脉病，皮下梗死和白质脑病（CADASIL），这与Notch 3受体（细胞表面）的突变有关参与发育的基本细胞信号通路的蛋白质。

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    Joseph F. Arboleda-Velasquez; Jan Manent; Jeong Hyun Lee; Saara Tikka; Carolina Ospina; Charles R. Vanderburg; Matthew P. Frosch; Manuel Rodriguez-Falcon; Judit Villen; Steven Gygi; Francisco Lopera; Hannu Kalimo; Michael A. Moskowitz; Cenk Ayata; Angeliki Louvi; Spyros Artavanis-Tsakonas;

  • 作者单位

    Department of Cell Biology, Harvard Medical School, Boston, MA 02115;

    Department of Cell Biology, Harvard Medical School, Boston, MA 02115;

    Departments of Radiology and Neurology, Stroke and Neurovascular Regulation Laboratory, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129;

    Department of Cell Biology, Harvard Medical School, Boston, MA 02115,Protein Chemistry Unit, Institute of Biomedicine/Anatomy and Haartman Institute, Department of Pathology, University of Helsinki, 00014 Helsinki, Finland;

    Department of Cell Biology, Harvard Medical School, Boston, MA 02115,Program on Neurogenetics and Departments of Neurosurgery and Neurobiology, Yale School of Medicine, New Haven, CT 06520;

    Harvard NeuroDiscovery Center, Boston, MA 02129;

    Harvard NeuroDiscovery Center, Boston, MA 02129,Alzheimer Research Unit,Mass General Institute for Neurodegenerative Disease, Department of Neurology and C.S. Kubik Laboratory for Neuropathology, Pathology Service, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114;

    Proteomics Unit, Department of Experimental and Health Sciences, Pompeu Fabra University, 08003 Barcelona, Spain;

    Department of Cell Biology, Harvard Medical School, Boston, MA 02115;

    Department of Cell Biology, Harvard Medical School, Boston, MA 02115;

    Grupo de Neurociencias de Antioquia, Universidad de Antioquia, AA 1226 Medellín, Colombia;

    Protein Chemistry Unit, Institute of Biomedicine/Anatomy and Haartman Institute, Department of Pathology, University of Helsinki, 00014 Helsinki, Finland;

    Departments of Radiology and Neurology, Stroke and Neurovascular Regulation Laboratory, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129;

    Departments of Radiology and Neurology, Stroke and Neurovascular Regulation Laboratory, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129;

    Program on Neurogenetics and Departments of Neurosurgery and Neurobiology, Yale School of Medicine, New Haven, CT 06520;

    Department of Cell Biology, Harvard Medical School, Boston, MA 02115;

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