title: Proteomics approaches to study genetic and metabolic disorders.
abstract: Several proteomics approaches to study different aspects of genetic and metabolic diseases are presented. The choice of technique is strongly dependent on the biological question to be addressed and the availability and amount of sample. In general, there are three approaches that may be used to study genetic and metabolic diseases: protein profiling of complex biological samples, identification of affected proteins, or a functional proteomics approach to study protein interactions and function.
authors.affiliation: Laboratory for Pediatrics and Neurology, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Neuromuscular Center Nijmegen, 6500 HB Nijmegen, The Netherlands.
authors.forename: Jolein
authors.initials: J
authors.lastname: Gloerich
authors.forename: Ron A
authors.initials: RA
authors.lastname: Wevers
authors.forename: Jan A M
authors.initials: JA
authors.lastname: Smeitink
authors.forename: Baziel G
authors.initials: BG
authors.lastname: van Engelen
authors.forename: Lambert P
authors.initials: LP
authors.lastname: van den Heuvel
mesh_terms: D015180:Electrophoresis, Gel, Two-Dimensional / Q000379:methods; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism; D005819:Genetic Markers; D006801:Humans; D008659:Metabolic Diseases / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D011506:Proteins / Q000235:genetics* / Q000302:isolation & purification / Q000378:metabolism*; D040901:Proteomics / Q000379:methods*
chemical_list: D005819:Genetic Markers; D011506:Proteins