期刊
FEBS LETTERS
卷 587, 期 10, 页码 1466-1473出版社
WILEY
DOI: 10.1016/j.febslet.2013.03.035
关键词
Neurofibromin; Neurofibromatosis type I; Dynein Heavy Chain 1; Melanosomes; Cafe au lait macules
资金
- Neurofibromatosis Society of Ontario
- Vanier Canada Graduate Scholarship
- SickKids RESTRACOMP Award
- Garron Family Cancer Centre
Neurofibromin (NF1) is encoded by the NF1 tumour suppressor gene. Mutations result in a disorder known as Neurofibromatosis Type 1 (NF-1), and patients are often diagnosed due to the presence of unusual pigmentary patterns that include Cafe au lait macules (CALMs). Little is known about how loss of NF1 results in pigmentary defects in melanocytes. We sought to identify novel NF1 interacting proteins and elucidate the molecular mechanisms underlying the pigmentary defects. The cytoplasmic Dynein Heavy Chain 1 (DHC) was found to interact with NF1 along microtubules in vesicular structures identified to be melanosomes. Our studies suggest that NF1 is involved in melanosomal localization, and that disruptions in NF1-DHC interactions may contribute to the abnormal pigmentary features commonly associated with this debilitating syndrome. Structured summary of protein interactions: NF1 physically interacts with DHC by anti bait coimmunoprecipitation (View interaction) (C) 2013 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.
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