Standard-flow LC and thermal focusing ESI elucidates altered liver proteins in late stage Niemann–Pick, type C1 disease

Aim: Mass spectrometry (MS)-based proteomics, particularly with the development of nano-ESI, have been invaluable to our understanding of altered proteins related to human disease. Niemann–Pick, type C1 (NPC1) disease is a fatal, autosomal recessive, neurodegenerative disorder. The resulting defects include unesterified cholesterol and sphingolipids accumulation in the late endosomal/lysosomal system resulting in organ dysfunction including liver disease. Mass spectrometry (MS)-based proteomics has become the analytical tool of choice for the identification and quantification of proteins in complex biological systems since the availability of genome sequence databases. During MS analysis, analytes are ionized in the gas phase, followed by m/z determination via a...