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Neurometabolic disease

Proteomic analysis identifies biomarkers for Niemann–Pick disease, type C1

Nature Reviews Neurology volume 9, page 3 (2013)Cite this article

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A quantitative proteomic study has revealed dysregulation of a number of proteins in Niemann–Pick disease, type C1 (NPC1). An initial analysis in mouse cerebellar tissue identified 77 proteins that were differentially expressed between Npc1 mutants and controls. Altered expression of three of these proteins—glutathione S-transferase α, superoxide dismutase and FABP3—was confirmed in cerebrospinal fluid from patients with NPC1.

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ORIGINAL RESEARCH PAPER

  1. Cologna, S. M. et al. Quantitative proteomic analysis of Niemann–Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. PLoS ONE 7, e47845 (2012)

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Proteomic analysis identifies biomarkers for Niemann–Pick disease, type C1. Nat Rev Neurol 9, 3 (2013). https://doi.org/10.1038/nrneurol.2012.252

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