ATP-binding cassette protein ABCA7 deficiency impairs sphingomyelin synthesis, cognitive discrimination, and synaptic plasticity in the entorhinal cortex.
The Journal Of Biological Chemistry
Iqbal, Jahangir J; Suarez, Manuel D MD; Yadav, Pradeep K PK; Walsh, Meghan T MT; Li, Yimeng Y; Wu, Yiyang Y; Huang, Zhengwei Z; James, Antonisamy William AW; Escobar, Victor V; Mokbe, Ashwag A; Brickman, Adam M AM; Luchsinger, José A JA; Dai, Kezhi K; Moreno, Herman H; Hussain, M Mahmood MM
Bi, Wenya Linda WL; Greenwald, Noah F NF; Abedalthagafi, Malak M; Wala, Jeremiah J; Gibson, Will J WJ; Agarwalla, Pankaj K PK; Horowitz, Peleg P; Schumacher, Steven E SE; Esaulova, Ekaterina E; Mei, Yu Y; Chevalier, Aaron A; Ducar, Matthew M; Thorner, Aaron R AR; van Hummelen, Paul P; Stemmer-Rachamimov, Anat A; Artyomov, Maksym M; Al-Mefty, Ossama O; Dunn, Gavin P GP; Santagata, Sandro S; Dunn, Ian F IF; Beroukhim, Rameen R
Publication Date: 2017
Variant appearance in text: ABCA7: 2966G>A; R989H; rs139214131
Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants.
Neurology. Genetics
Nuytemans, Karen K; Maldonado, Lizmarie L; Ali, Aleena A; John-Williams, Krista K; Beecham, Gary W GW; Martin, Eden E; Scott, William K WK; Vance, Jeffery M JM
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: ABCA7: R989H; rs139214131