Cardiac channelopathies: it's in the genes

Article Abstract:

Mark Keating and colleagues identified genes responsible for congenital long QT syndrome that caused sudden cardiac death. Perturbations in the ion channels were central to the disorder and this revelation provided a molecular model for the study of ventricular arrhythmias and enabled further dissection of the genetic defects underlying subtleties in the cardiac phenotype.

Genetic aspects, Phenotype, Phenotypes, Arrhythmia, Long QT syndrome

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A COG in the sugar machine

Article Abstract:

A congenital disorder of glycosylation (CDG) that uniquely disrupts the machinery that adds sugar groups to protein is described. The disruption of (COG) complex in glycosylation-deficient Chinese Hamster ovary (CHO) mutant cell lines leads to multiple glycosylation abnormalities and numerous morphological and functional defects.

Care and treatment, Pediatric diseases, Glycosylation, Golgi apparatus

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