Identification of a Biomarker in Cerebrospinal Fluid for Neuronopathic Forms of Gaucher Disease

  title={Identification of a Biomarker in Cerebrospinal Fluid for Neuronopathic Forms of Gaucher Disease},
  author={Hila Zigdon and Alon Savidor and Yishai Levin and Anna Meshcheriakova and Raphael Schiffmann and Anthony H Futerman},
  booktitle={PloS one},
Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involvement. We now identify a protein, glycoprotein non-metastatic B (GPNMB), that acts as an authentic marker of brain pathology in neurological forms of Gaucher disease. Using three independent techniques, including quantitative global proteomic… CONTINUE READING
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