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Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways

ABSTRACT: We obtained accesses to brain tissue and cerebrospinal fluid (CSF) from the only available post- mortem mucolipidosis type IV (MLIV) patient which became available only recently. We performed mass spectrometry (MS)- based proteomics. Our data demonstrate that pathological players detected in Mcoln1-/- mice are also relevant in the human disease. Moreover, we suggest some previously un-known pathological players. We complement this study by using Mcoln1-/- mice, and were able to confirm that many pathological pathways are evident early in disease development, emphasizing the need for early therapeutic intervention.

ORGANISM(S): Mus musculus

PROVIDER: GSE157825 | GEO | 2021/01/27

REPOSITORIES: GEO

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Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways

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