title: A model for PKC involvement in the pathogenesis of inborn errors of metabolism.
abstract: A model for the possible involvement of Protein Kinase C (PKC) in the pathogenesis of inborn errors of metabolism has been proposed. According to this model, perturbation of PKC activity by the accumulation of naturally occurring compounds serves as a unifying functional link between genotype and phenotype. Recent reports regarding an increasing number of modulating metabolites, specific PKC-subtypes activities, their effect on transcription factors and gene expression in various diseases and additional PKC-substrates expand the model. A re-examination of the proposed model in view of these reports and, vice versa, a review of these reports in the context of the proposed model reveal some common phenotypic outcomes in inborn errors of fatty acid-, cholesterol- and homocystine-metabolism as well as lysosomal and peroxisomal diseases.
authors.affiliation: Metabolic Service, Genetic Health Services, Victoria, Australia. boneha@cryptic.rch.unimelb.edu.au
authors.forename: Avihu
authors.initials: A
authors.lastname: Boneh
mesh_terms: D000818:Animals; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000473:pathology; D008954:Models, Biological; D011493:Protein Kinase C / Q000378:metabolism*; D013106:Sphingolipidoses / Q000201:enzymology* / Q000473:pathology; D013107:Sphingolipids / Q000378:metabolism
chemical_list: D013107:Sphingolipids; D011493:Protein Kinase C