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. 2011 Oct 31;108(45):18313–18317. doi: 10.1073/pnas.1115888108

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Fig. 4. — DCXR protein levels and plasma xylulose levels associated with DCXR genotypes. (A) Western blot of DCXR protein from lymphoblasts. Subjects with +/+ genotypes (lanes 1, 7, and 13) have normal DCXR sequence. Subjects with −/− genotypes are homozygous for c.52(+1)G > A (lane 2), homozygous for c.583ΔC (lanes 3–5), or compound heterozygous for c.52(+1)G > A/c.583ΔC (lane 6). Subjects with +/− genotypes are heterozygous for a wild-type allele and c.583ΔC (lanes 8–12). DCXR protein is undetectable in all individuals homozygous or compound heterozygous for mutant DCXR genotypes and reduced in heterozygous individuals relative to those with normal genotypes. HPRT was used as a loading control. (B) Xylulose levels detected by HILIC-APCI-MS in plasma of subjects of the DCXR genotypes defined above. Plasma of individuals of mutant (−/−) DCXR genotypes contains elevated xylulose, whereas xylulose levels are extremely low in plasma of individuals with heterozygous (+/−) or wild-type (+/+) genotypes.