Niemann-Pick's disease type C1 is a rare, inheritable and currently untreatable lysosomal storage disease. The main characteristic of this disease is accumulation of cholesterol in the endo-lysosomal system. The cause of the disease is a mutation in the NPC1 protein, which is necessary for egress of cholesterol from lysosomes. The disease is severe and progressive and includes neurological symptoms such as ataxia, dysphagia and dementia. In most cases, (hepato)splenomegaly is also present. Besides, Niemann-Pick's disease type C is simmilar to Alzheimer's disease.

Neurofibrillary tangles and amyloidogenic processing of APP are present in both of these conditions. An effort was made to see this disease in a new light by investigating the N-glycans of lysosomal membrane glycoproteins. CHO-NPC1 -/- cell culture was used for this purpose, as well as CHOwt cells as a control group. In order to isolate the lysosomal membrane glycoproteins, magnetic chromatography and Triton x-114 mediated phase separation were used. The N-glycans were separated from the proteins and labeled with 2-aminobenzamide and then analysed with HILIC-UPLC. Peak assignment was made with mass spectrometry and GlycoBase database. Statistically significant differences were discovered in the N-glycome of the lysosomal membrane.

There was a significant increase in complex glycan structures, as well as an increase of M5 type glycans. There was also a difference mannose residues number of oligomannose glycans. M8 glycan was more abundant in CHOwt cells. Those discoveries were in line with some of the previous work done on the subject. Ključne riječi. I doser mp3 pack torrent.

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