title: Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.
abstract: Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement, and cardiovascular problems. The classic forms of PXE are due to loss-of-function mutations in the ABCC6 gene, which encodes ABCC6, a putative transmembrane efflux transporter expressed primarily in the liver. While considerable progress has recently been made in understanding the molecular genetics and pathomechanisms of PXE, no effective or specific treatment is currently available for this disorder. PXE International, the premiere patient advocacy organization, organized a workshop in November 2010 to assess the current state of diagnostics and research to develop an agenda towards treatment of PXE. This overview summarizes the progress in PXE research, with emphasis on molecular therapies for this, currently intractable, disorder.
authors.affiliation: Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. jouni.uitto@jefferson.edu
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
authors.forename: Lionel
authors.initials: L
authors.lastname: Bercovitch
authors.forename: Sharon F
authors.initials: SF
authors.lastname: Terry
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Terry
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D018740:Genetic Heterogeneity; D006801:Humans; D058990:Molecular Targeted Therapy; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D057170:Translational Research, Biomedical
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human