Fig. 2: IMPDH2 deletion transcript leads to IMPDH deficiency.
From: IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder
Red: patients. Black: controls. Healthy family member: black triangle. A IMPDH2: rate-limiting enzyme and first reaction in de novo biosynthesis of guanine nucleotides. Enzymes previously associated with dystonia in red. BH tetrahydrobiopterin, DDC aromatic amino acid decarboxylase, GCH1 GTP cyclohydrolase I, GMPR guanosine monophosphate reductase, GMPS guanosine monophosphate synthetase, HPRT1 hypoxanthine phosphoribosyltransferase 1, PTPS pyruvoyl-tetrahydropterin synthase, SPR sepiapterin reductase, TH tyrosine hydroxylase. B–F Relative (rel) mRNA expression of IMPDH2, IMPDH1, HPRT1, GMPR1 and GMPR2. G Quantification of IMPDH2 transcript with deletion in patients and controls. H, I IMPDH2 protein amount in fibroblasts, induced pluripotent stem cells (iPSC) and differentiated neurospheres. J Volcano plot: serum metabolic profile changes between patients and healthy controls. In red: significantly changed metabolites (Fold-change > 1.5 and p value < 0.01). K Deoxycytidine (dC) concentration in serum. Statistical significance: pairwise two-tailed t test (*p ≤ 0.05, **p ≤ 0.01, ***p ≤ 0.001).
