Table 2 Dysregulated proteins within PTHS patient-derived muscle biopsy associated with oxidative stress
From: Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
UniProt Entry | Protein Accession Number | OMIM# | Gene Name | Patient vs. Control | p-Value | Dysregulation status |
|---|---|---|---|---|---|---|
CAH1 | P00915 | 114,800 | CA1 | 15.82 | 0.000 | upregulated |
CAH2 | P00918 | 611,492 | CA2 | 4.88 | 0.000 | upregulated |
PRDX2 | P32119 | 600,538 | PRDX2 | 4.36 | 0.000 | upregulated |
CATA | P04040 | 115,500 | CAT | 4.04 | 0.000 | upregulated |
GPX1 | P07203 | 138,320 | GPX1 | 2.21 | 0.000 | upregulated |
GSHB | P48637 | 601,002 | GSS | 2.16 | 0.001 | upregulated |
GSTM3 | P21266 | 138,390 | GSTM3 | 2.09 | 0.001 | upregulated |