Table 3.
Differentially regulated proteins associated with disorders with dystonia as a sign
Protein | Gene | Disorder | p-value | Difference DRD-WT (Welch’s t-test) | References |
---|---|---|---|---|---|
Tyrosine hydroxylase | Th | DOPA-responsive dystonia | 0.001 | −3.72 | [16,26] |
Translocase of outer mitochondrial membrane 70a | Tomm70a | hypotonia, hyper-reflexia, ataxia, dystonia | 0.002 | 0.75 | [38] |
Sulfur dioxygenase | Ethe1 | ethylmalonic encephalopathy | 0.004 | 0.87 | [39] |
Flavoprotein subunit of succinate dehydrogenase | Sdha | multisystem mitochondrial disease | 0.006 | 0.15 | [40] |
Protein kinase C gamma | Prkcg | spinocerebellar ataxia type 14 | 0.010 | −0.31 | [41–43] |
Succinate-coenzyme A ligase, ADP-forming, beta subunit | Sucla2 | dystonia deafness syndrome | 0.011 | 0.25 | [44, 45] |
Proline-rich transmembrane protein 2 | Prrt2 | paroxysmal kinesigenic dyskinesias | 0.016 | −0.56 | [46, 47] |
GABAA receptor, subunit beta 2 | Gabrb2 | cervical dystonia | 0.019 | −0.59 | [48]* |
Glial fibrillary acidic protein | Gfap | Alexander disease | 0.030 | 0.23 | [49, 50] |
Arginyl-tRNA synthetase 2, mitochondrial | Rars2 | pontocerebellar hypoplasia type 6 | 0.032 | 0.74 | [51] |
OPA1, mitochondrial dynamin like GTPase | Opa1 | optic atrophy | 0.045 | 0.21 | [52] |
Indirectly associated