SORL1 variants across Alzheimer's disease European American cohorts.
| Title | SORL1 variants across Alzheimer's disease European American cohorts. |
| Publication Type | Journal Article |
| Year of Publication | 2016 |
| Authors | Fernández, MVictoria, Black, K, Carrell, D, Saef, B, Budde, J, Deming, Y, Howells, B, Del-Aguila, JL, Ma, S, Bi, C, Norton, J, Chasse, R, Morris, J, Goate, A, Cruchaga, C |
| Corporate Authors | NIA-LOAD family study group, NCRAD |
| Journal | Eur J Hum Genet |
| Volume | 24 |
| Issue | 12 |
| Pagination | 1828-1830 |
| Date Published | 2016 12 |
| ISSN | 1476-5438 |
| Keywords | Age of Onset, Aged, Alzheimer Disease, European Continental Ancestry Group, Female, Humans, LDL-Receptor Related Proteins, Male, Membrane Transport Proteins, Middle Aged, Polymorphism, Single Nucleotide, United States |
| 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. |
| DOI | 10.1038/ejhg.2016.122 |
| Alternate Journal | Eur. J. Hum. Genet. |
| PubMed ID | 27650968 |
| PubMed Central ID | PMC5117924 |
| Grant List | R01 AG044546 / AG / NIA NIH HHS / United States U24 AG021886 / AG / NIA NIH HHS / United States U01 AG052411 / AG / NIA NIH HHS / United States R01 NS085419 / NS / NINDS NIH HHS / United States P01 AG003991 / AG / NIA NIH HHS / United States P50 AG005681 / AG / NIA NIH HHS / United States U24 AG056270 / AG / NIA NIH HHS / United States P01 AG026276 / AG / NIA NIH HHS / United States U24 AG026395 / AG / NIA NIH HHS / United States R01 AG035083 / AG / NIA NIH HHS / United States |