Article ID Journal Published Year Pages File Type
10833745 Molecular Genetics and Metabolism 2012 9 Pages PDF
Abstract
► Inwardly rectifying potassium (Kir) channels are ubiquitous. ► Control cellular events from neurotransmitter release to epithelial transport. ► Genetic and molecular understanding of disease-related Kir channel mutations. ► Mutations positioned within a regulatory cytoplasmic “hotspot”. ► Metabolic regulation pathways provide insight into phenotypic heterogeneity.
Keywords
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Preview
Genetic defects in the hotspot of inwardly rectifying K+ (Kir) channels and their metabolic consequences: A review
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