title: Palmitoylation and depalmitoylation defects.
abstract: Palmitoylation describes the enzymatic attachment of a 16-carbon atom fatty acid to a target protein. Such lipidation events occur in all eukaryotes and can be of reversible (S-palmitoylation) or irreversible (N-palmitoylation) nature. In particular S-palmitoylation is dynamically regulated by two opposing types of enzymes which add (palmitoyl acyltransferases - PAT) or remove (acyl protein thioesterases) palmitate from proteins. Protein palmitoylation is an important process that dynamically regulates the assembly and compartmentalization of many neuronal proteins at specific subcellular sites. Enzymes that regulate protein palmitoylation are critical for several biological processes. To date, eight palmitoylation related genes have been reported to be associated with human disease. This review intends to give an overview on the pathological changes which are associated with defects in the palmitoylation/depalmitoylation process.
authors.affiliation: Institute for Clinical Chemistry, University Hospital Zurich, Raemistrasse 100, CH-8091, Zurich, Switzerland, thorsten.hornemann@usz.ch.
authors.forename: Thorsten
authors.initials: T
authors.lastname: Hornemann
mesh_terms: D000217:Acyltransferases / Q000378:metabolism; D000544:Alzheimer Disease / Q000235:genetics; D000818:Animals; D002244:Carbon / Q000737:chemistry; D005489:Focal Dermal Hypoplasia / Q000235:genetics; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics; D009474:Neurons / Q000378:metabolism; D010169:Palmitic Acids / Q000737:chemistry*; D010170:Palmitoyl-CoA Hydrolase / Q000378:metabolism; D012559:Schizophrenia / Q000235:genetics
chemical_list: D010169:Palmitic Acids; D002244:Carbon; D000217:Acyltransferases; D010170:Palmitoyl-CoA Hydrolase
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