Title |
LC3, an autophagosome marker, is expressed on oligodendrocytes in Nasu-Hakola disease brains
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Published in |
Orphanet Journal of Rare Diseases, May 2014
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DOI | 10.1186/1750-1172-9-68 |
Pubmed ID | |
Authors |
Jun-ichi Satoh, Nobutaka Motohashi, Yoshihiro Kino, Tsuyoshi Ishida, Saburo Yagishita, Kenji Jinnai, Nobutaka Arai, Kiyotaka Nakamagoe, Akira Tamaoka, Yuko Saito, Kunimasa Arima |
Abstract |
Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either DAP12 or TREM2. TREM2 and DAP12 constitute a receptor/adaptor signaling complex expressed exclusively on osteoclasts, dendritic cells, macrophages, and microglia. Neuropathologically, NHD exhibits profound loss of myelin and accumulation of axonal spheroids, accompanied by intense gliosis accentuated in the white matter of the frontal and temporal lobes. At present, the molecular mechanism responsible for development of leukoencephalopathy in NHD brains remains totally unknown. |
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Mendeley readers
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