CADASIL: Notch signaling defect or protein accumulation problem?
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Divisions of Human Genetics and Clinical Laboratories, and Department of Pediatrics, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA. spinner@mail.med.upenn.edu
D001921:Brain / Q000378:metabolism; D015161:Dementia, Multi-Infarct / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics* / Q000378:metabolism; D051881:Receptor, Notch1; D011956:Receptors, Cell Surface; D015398:Signal Transduction; D014157:Transcription Factors
D008565:Membrane Proteins; C497761:NOTCH1 protein, human; D011518:Proto-Oncogene Proteins; D051881:Receptor, Notch1; D011956:Receptors, Cell Surface; D014157:Transcription Factors