Topic: 4-phenylbutyrate

Cerebral palsy (CP) is the leading cause of motor disability in children. Hypoxia-ischemia (HI) and prematurity are main risk factors. Administration of magnesium sulfate (MgSO4) to mothers before 33 weeks' amenorrhea (SA) reduces the occurrence of CP at 2 years by around 30%. At this age, the white matter composed by oligodendrocytes, is particularly vulnerable. However, at long term, MgSO4 neuroprotective effects are not significant.Given the anti-inflammatory and antioxidant properties of 4-phenylbutyrate (4-PBA), its association with MgSO4 may optimize and prolong this neuroprotection in p

The human γ-aminobutyric acid (GABA) transporter 1 (hGAT-1) is responsible for clearing GABA from synapse into neurons and astrocytes.Its mutations are known to impair protein folding and trigger epilepsy.Such folding defects are amenable to rescue by chemical and pharmacological chaperones.Our aim is to elucidate molecular features of two novel disease variants, in HEK293 cells (in vitro) and Drosophila melanogaster (in vivo).Deglycosylation experiments (endoglycosidase H(Endo H)) revealed distinct expression patterns for wild type hGAT-1 and the mutants: ER-resident proteins are core-glycosy