Publications by authors named "Chantal Angueyra"

Congenital infections affecting newborn infants can have potentially devastating clinical outcomes. They are usually caused by viruses that infect mothers during pregnancy and are transmitted to the fetus or newborn during the prenatal, perinatal or postnatal periods. Congenital cytomegalovirus (cCMV) is the most common congenital infection affecting up to 2.

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Myoclonus dystonia (DYT11) is a movement disorder caused by loss-of-function mutations in and characterized by involuntary jerking and dystonia that frequently improve after drinking alcohol. Existing transgenic mouse models of DYT11 exhibit only mild motor symptoms, possibly due to rodent-specific developmental compensation mechanisms, which have limited the study of neural mechanisms underlying DYT11. To circumvent potential compensation, we used short hairpin RNA (shRNA) to acutely knock down S in the adult mouse and found that this approach produced dystonia and repetitive, myoclonic-like, jerking movements in mice that improved after administration of ethanol.

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DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA. How these mutations cause dystonia remains unknown. Mouse models which have embryonically targeted torsinA have failed to recapitulate the dystonia seen in patients, possibly due to differential developmental compensation between rodents and humans.

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