Table 3 Dysregulated proteins within PTHS patient-derived muscle biopsy showing mitochondrial localization
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 |
|---|---|---|---|---|---|---|
HMCS2 | P54868 | 600,234 | HMGCS2 | 4.67 | 0.000 | Upregulated |
NNRE | Q8NCW5 | 608,862 | NAXE | 2.00 | 0.006 | Upregulated |
NDUBB | Q9NX14 | 300,403 | NDUFB11 | 0.48 | 0.006 | Downregulated |
CX7A1 | P24310 | 123,995 | COX7A1 | 0.44 | 0.032 | Downregulated |
PRDX5 | P30044 | 606,583 | PRDX5 | 0.42 | 0.002 | Downregulated |
DHSD | O14521 | 602,690 | SDHD | 0.38 | 0.001 | Downregulated |
COX5A | P20674 | 603,773 | COX5A | 0.16 | 0.000 | Downregulated |