MUTATIONS PSEN1 73637682 GRCh37/hg19 rs63750815 G T g.22950G> T g.39504G> T Exon 4 Point, Missense Coding Decreased Aβ40 and Aβ42 production; increased Aβ42/Aβ40 ratio in vitro. Neurofibrillary tangles and neuritic plaques with dystrophic neurites correspondi
MUTATIONS PSEN1 73637671 GRCh37/hg19 rs63750599 T C g.22939T> C g.39493T> C Exon 4 Point, Missense Coding Increased Aβ42/Aβ40 ratio; increased Aβ42 in transfected cells. In vitro, decreased Aβ42 production and abrogated Aβ40 production. Neuropathological exam
MUTATIONS PSEN1 73637661 GRCh37/hg19 rs63749967 G C g.22929G> C g.39483G> C Exon 4 Point, Missense Coding Results were mixed. Although all indicated little or no change in Aβ42/Aβ40, one assay showed a robust increase in Aβ43 and a decrease in Aβ37, with a de
MUTATIONS PSEN1 73637653 GRCh37/hg19 rs63749824 C T g.22921C> T g.39475C> T Exon 4 Point, Missense Coding Increased the Aβ42/Aβ40 ratio, and decreased the Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios in cells. Also, altered transcriptomic profiles in c
MUTATIONS PSEN1 73637521 GRCh37/hg19 rs63750592 G A g.22789G> A g.39343G> A Exon 4 Point, Missense Coding Aβ profile very similar to wildtype PSEN1 in cell-based assays. Unknown. R35Q Alzheimer's Disease: BenignAlzheimer's Disease, None Although t
MUTATIONS PSEN1 73637513 GRCh37/hg19 T C g.22781T> C g.39335T> C Exon 4 Point, Silent Coding Unknown. Unknown. N32N Alzheimer's Disease: Likely BenignAlzheimer's Disease, None This is a silent polymorphism, considered most likely not pathogenic. It
PAPER Michel PP, Toulorge D, Guerreiro S, Hirsch EC
FASEB J. 2013 May 22; PubMed: 23699175
PAPER Costandi M
Nature. 2013 May 23;497(7450):S19-20. PubMed: 23698504
PAPER Gräff J, Kahn M, Samiei A, Gao J, Ota KT, Rei D, Tsai LH
J Neurosci. 2013 May 22;33(21):8951-60. PubMed: 23699506
PAPER Kelp A, Koeppen AH, Petrasch-Parwez E, Calaminus C, Bauer C, Portal E, Yu-Taeger L, Pichler B, Bauer P, Riess O, Nguyen HP
J Neurosci. 2013 May 22;33(21):9068-81. PubMed: 23699518
PAPER Chahine LM, Qiang J, Ashbridge E, Minger J, Yearout D, Horn S, Colcher A, Hurtig HI, Lee VM, Van Deerlin VM, Leverenz JB, Siderowf AD, Trojanowski JQ, Zabetian CP, Chen-Plotkin A
JAMA Neurol. 2013 Jul 1;70(7):852-8. PubMed: 23699752
PAPER Calamini B, Lo DC, Kaltenbach LS
Neurotherapeutics. 2013 Jul;10(3):400-15. PubMed: 23700210
PAPER Medina M, Avila J, Villanueva N
Mar Drugs. 2013 May;11(5):1656-68. PubMed: 23697949
PAPER Chen X, Chang J, Deng Q, Xu J, Nguyen TA, Martens LH, Cenik B, Taylor G, Hudson KF, Chung J, Yu K, Yu P, Herz J, Farese RV, Kukar T, Tansey MG
J Neurosci. 2013 May 22;33(21):9202-13. PubMed: 23699531
PAPER San Sebastian W, Samaranch L, Kells AP, Forsayeth J, Bankiewicz KS
Neurotherapeutics. 2013 Jul;10(3):498-510. PubMed: 23700209