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. 2018 Aug 14;27(20):3612–3626. doi: 10.1093/hmg/ddy259

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Published by Oxford University Press 2018.

This work is written by US Government employees and is in the public domain in the US.

PMC Copyright notice

GAG dysregulation in MPS I. (A) GAG biosynthesis and degradation genes from REACTOME pathways (R-HSA-2022928 and R-HSA-2024096) significantly differentially expressed (DE) in the MPS I isotypes. Genes had a >2-fold change and <1% FDR when compared to control samples. (B) The significantly DE GAG gene changes in expression are shown as a heatmap. The Z-score of the gene expression is shown. (C and D) Validation of GAG biosynthesis and degradation genes by qRT-PCR. (E) Immunoblot validation of selected GAG genes. (F) Validation of GAG sulfate assimilation genes by qRT-PCR.