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A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?

Mol. Genet. Metab.. 2018-03; 
MayorgaLía,GamboniBeatriz,MampelAlejandra,RoquéMa
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… The membrane was blocked in 5% low fat milk-PBS solution and then incubated overnight at 4 °C with primary antibodies: Anti-GLUT1 1:500 (rabbit- Alomone Labs® Cat #: AGT-021) and Anti- β-actin 1:1000 (mouse- GenScript® Cat# A00702) followed by PBS-Tween washes …

摘要

PURA is a DNA/RNA-binding protein known to have an important role as a transcriptional and translational regulator. Mutations in the PURA gene have been documented to cause mainly a neurologic phenotype including hypotonia, epilepsy, development delay and respiratory alterations. We report here a patient with a frame-shift deletion in the PURA gene that apart from the classical PURA deficiency phenotype had marked hypoglycorrhachia, overlapping the clinical findings with a GLUT1 deficiency syndrome. SLC2A1 (GLUT1) mutations were discarded, so we hypothesized that GLUT1 could be downregulated in this PURA deficient scenario. We confirmed reduced GLUT1 expression in the patient's peripheral blood cells co... More

关键词

GLUT1,Hypoglycorrhachia,PURA,Transcriptional regul