title: SORL1 variants across Alzheimer's disease European American cohorts.
abstract: The accumulation of the toxic Aβ peptide in Alzheimer's disease (AD) largely relies upon an efficient recycling of amyloid precursor protein (APP). Recent genetic association studies have described rare variants in SORL1 with putative pathogenic consequences in the recycling of APP. In this work, we examine the presence of rare coding variants in SORL1 in three different European American cohorts: early-onset, late-onset AD (LOAD) and familial LOAD.
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.|Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Maria Victoria
authors.initials: MV
authors.lastname: Fernández
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.|Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Black
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: David
authors.initials: D
authors.lastname: Carrell
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.|Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Ben
authors.initials: B
authors.lastname: Saef
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.|Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: John
authors.initials: J
authors.lastname: Budde
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.|Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Yuetiva
authors.initials: Y
authors.lastname: Deming
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.|Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Bill
authors.initials: B
authors.lastname: Howells
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.|Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Jorge L
authors.initials: JL
authors.lastname: Del-Aguila
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.|Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Shengmei
authors.initials: S
authors.lastname: Ma
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.|Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Catherine
authors.initials: C
authors.lastname: Bi
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.|Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Joanne
authors.initials: J
authors.lastname: Norton
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.|Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Rachel
authors.initials: R
authors.lastname: Chasse
authors.affiliation: Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.|Knight Alzheimer's Disease Research Center, Washington University School of Medicine, St. Louis, MO, USA.|Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: John
authors.initials: J
authors.lastname: Morris
authors.affiliation: Department of Neuroscience, Icahn School of MEdicine at Mount Sinai, NY, USA.
authors.forename: Alison
authors.initials: A
authors.lastname: Goate
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.|Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Carlos
authors.initials: C
authors.lastname: Cruchaga
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D026502:LDL-Receptor Related Proteins / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014481:United States; D044465:White People / Q000235:genetics
chemical_list: D026502:LDL-Receptor Related Proteins; D026901:Membrane Transport Proteins; C102582:SORL1 protein, human