Charcot-Marie-Tooth 2b associated Rab7 mutations cause axon growth and guidance defects during vertebrate sensory neuron development

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• 作者：Olga Y. Ponomareva ; Kevin W. Eliceiri ; Mary C. Halloran
• 关键词：CMT2b ; Axon guidance ; Axon branching ; Axon transport ; Endosome trafficking ; Rab7 ; Zebrafish ; Neurodegeneration
• 刊名：Neural Development
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：11
• 期：1
• 全文大小：2,433 KB
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• 作者单位：Olga Y. Ponomareva (1) (2) (3) (4)
  Kevin W. Eliceiri (5)
  Mary C. Halloran (1) (2) (3) (4)
  
  1. Department of Zoology, University of Wisconsin, 1117 West Johnson St., Madison, WI, 53706, USA
  2. Department of Neuroscience, University of Wisconsin, 1111 Highland Ave, Madison, WI, 53705, USA
  3. Neuroscience Training Program, University of Wisconsin, 1111 Highland Ave, Madison, WI, 53705, USA
  4. Medical Scientist Training Program, University of Wisconsin, 750 Highland Ave, Madison, WI, 53705, USA
  5. Laboratory for Optical and Computational Instrumentation, University of Wisconsin, 1675 Observatory Dr, Madison, WI, 53706, USA
  
• 刊物主题：Neurosciences; Developmental Biology;
• 出版者：BioMed Central
• ISSN：1749-8104

文摘

Background Charcot-Marie-Tooth2b (CMT2b) is an axonal form of a human neurodegenerative disease that preferentially affects sensory neurons. CMT2b is dominantly inherited and is characterized by unusually early onset, presenting in the second or third decade of life. Five missense mutations in the gene encoding Rab7 GTPase have been identified as causative in human CMT2b disease. Although several studies have modeled CMT2b disease in cultured neurons and in Drosophila, the mechanisms by which defective Rab7 leads to disease remain poorly understood.