title: Paraoxonase gene mutations in amyotrophic lateral sclerosis.
abstract: Three clustered, homologous paraoxonase genes (PON1, PON2, and PON3) have roles in preventing lipid oxidation and detoxifying organophosphates. Recent reports describe a genetic association between the PON genes and sporadic amyotrophic lateral sclerosis (ALS). We now report that in genomic DNA from individuals with familial and sporadic ALS, we have identified at least 7 PON gene mutations that are predicted to alter PON function.
authors.affiliation: Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
authors.forename: Nicola
authors.initials: N
authors.lastname: Ticozzi
authors.forename: Ashley Lyn
authors.initials: AL
authors.lastname: LeClerc
authors.forename: Pamela J
authors.initials: PJ
authors.lastname: Keagle
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Glass
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Wills
authors.forename: Marka
authors.initials: M
authors.lastname: van Blitterswijk
authors.forename: Daryl A
authors.initials: DA
authors.lastname: Bosco
authors.forename: Ildefonso
authors.initials: I
authors.lastname: Rodriguez-Leyva
authors.forename: Cinzia
authors.initials: C
authors.lastname: Gellera
authors.forename: Antonia
authors.initials: A
authors.lastname: Ratti
authors.forename: Franco
authors.initials: F
authors.lastname: Taroni
authors.forename: Diane
authors.initials: D
authors.lastname: McKenna-Yasek
authors.forename: Peter C
authors.initials: PC
authors.lastname: Sapp
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Silani
authors.forename: Clement E
authors.initials: CE
authors.lastname: Furlong
authors.forename: Robert H
authors.initials: RH
authors.lastname: Brown
authors.forename: John E
authors.initials: JE
authors.lastname: Landers
mesh_terms: D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D043303:Aryldialkylphosphatase / Q000235:genetics*; D004252:DNA Mutational Analysis; D004950:Esterases / Q000235:genetics*; D005190:Family; D006801:Humans; D009154:Mutation; D017386:Sequence Homology, Amino Acid
chemical_list: D004950:Esterases; D043303:Aryldialkylphosphatase; C468406:PON1 protein, human; C468411:PON2 protein, human; C113656:PON3 protein, human