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. Author manuscript; available in PMC: 2022 Aug 1.
Published in final edited form as: Mol Genet Metab. 2021 Jun 2;133(4):352–361. doi: 10.1016/j.ymgme.2021.05.010

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 [4143]
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