The TREM2-DAP12 signaling pathway in Nasu–Hakola disease: a molecular genetics perspective

@inproceedings{Xing2015TheTS,
  title={The TREM2-DAP12 signaling pathway in Nasu–Hakola disease: a molecular genetics perspective},
  author={Junjie Xing and Amanda R Titus and Mary Beth Humphrey},
  booktitle={Research and reports in biochemistry},
  year={2015}
}
Nasu-Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a rare recessively inherited disease that is associated with early dementia and bone cysts with fractures. Here, we review the genetic causes of PLOSL with loss-of-function mutations or deletions in one of two genes, TYROBP and TREM2, encoding for two proteins DNAX-activating protein 12 (DAP12) and triggering receptor expressed on myeloid cells-2 (TREM2). TREM2 and DAP12 form an… CONTINUE READING
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