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Article

M-CSF receptor mutations in hereditary diffuse leukoencephalopathy with spheroids impair not only kinase activity but also surface expression.

Biochemical and biophysical research communications - 1 Nov 2013

Hiyoshi Masateru, Hashimoto Michihiro, Yukihara Mamiko, Bhuyan Farzana, Suzu Shinya

Abstract excerpt

The tyrosine kinase Fms, the cell surface receptor for M-CSF and IL-34, is critical for microglial proliferation and differentiation in the brain. Recently, a number of mutations have been identified in Fms as a putative genetic cause of hereditary diffuse leukoencephalopathy with spheroids (HDLS), implying an important role of microglial dysfunction in HDLS pathogenesis. In this study, we initially confirmed...

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PMID: 24120500
DOI: 10.1016/j.bbrc.2013.09.141

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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