PAPER Shamirian S, Nalbandian A, Khare M, Castellani R, Kim R, Kimonis VE
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329967 RESULTS
PAPER Jung JI, Ladd TB, Kukar T, Price AR, Moore BD, Koo EH, Golde TE, Felsenstein KM
Steroids as γ-secretase modulators.
FASEB J. 2013 May 28; PubMed: 23716494PAPER Kříž Z, Klusák J, Krištofíková Z, Koča J
How ionic strength affects the conformational behavior of human and rat beta amyloids--a computational study.
PLoS One. 2013;8(5):e62914. PubMed: 23717395PAPER Schedin-Weiss S, Inoue M, Teranishi Y, Yamamoto NG, Karlström H, Winblad B, Tjernberg LO
Visualizing active enzyme complexes using a photoreactive inhibitor for proximity ligation--application on γ-secretase.
PLoS One. 2013;8(5):e63962. PubMed: 23717518Courtney Sutphen
United States
MAPT I260V
MUTATIONS MAPT 44073986 GRCh37/hg19 rs63751249 A G g.110026A> G g.107200A> G I595V Exon 9 Point, Missense Coding Selective increase in tau aggregation (four-repeat isoforms only); No disruption of exon 10 splicing. Extensive tau pathology, but no neurofibrill
MAPT K257T
MUTATIONS MAPT 44073978 GRCh37/hg19 rs63750129 A C g.110018A> C g.107192A> C Exon 9 Point, Missense Coding Impairs its own lysosomal degradation; reduces ability to promote microtubule assembly. Frontotemporal atrophy, especially in the temporal lobes. Numero
PSEN1 R269H
MUTATIONS PSEN1 73664775 GRCh37/hg19 rs63750900 G A g.49991G> A g.66597G> A Exon 8 Point, Missense Coding Decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio in cells; decreased γ-secretase activity (53% of wildtype). Neuropathology consistent with Alzheimer
PSEN1 R269G
MUTATIONS PSEN1 73664774 GRCh37/hg19 rs63751019 C G g.49990C> G g.66596C> G Exon 8 Point, Missense Coding Decreased Aβ40 and Aβ42 production; increased Aβ42/Aβ40 ratio. Unknown, but in one patient, MRI showed mild, non-specific cortical atrophy and EEG revea
MAPT D285D
MUTATIONS MAPT 44061025 GRCh37/hg19 rs63750222 C T g.97065C> T g.94239C> T Exon 4a Point, Silent Coding Unknown. Not applicable. D285D Frontotemporal Dementia: BenignNone This variant in exon 4a may be relatively common. It was detected in 15 percent of 92 co
PSEN1 P267L
MUTATIONS PSEN1 73664769 GRCh37/hg19 rs63750779 C T g.49985C> T g.66591C> T Exon 8 Point, Missense Coding Unknown, but predicted damaging by multiple in silico algorithms. Unknown. P267L Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mu
PSEN1 P267S
MUTATIONS PSEN1 73664768 GRCh37/hg19 rs63751229 C T g.49984C> T g.66590C> T Exon 8 Point, Missense Coding Reduced γ-secretase activity; Increased cell cycle arrest. Neuropathology consistent with Alzheimer's disease. P267S Alzheimer's Disease: Patho
PSEN1 G266S
MUTATIONS PSEN1 73664765 GRCh37/hg19 rs121917807 G A g.49981G> A g.66587G> A Exon 8 Point, Missense Coding Marked increase in Aβ42/Aβ40 ratio; reduced production of Aβ42, and particularly Aβ40, in vitro. In one case, cotton-wool plaques; cerebral amyloid ang
PSEN1 P264L
MUTATIONS PSEN1 73664760 GRCh37/hg19 rs63750301 C T g.49976C> T g.66582C> T Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 and decreased Aβ38/Aβ42 ratios; increased Aβ42, and decreased Aβ40 and Aβ38 production; Deposition of PSEN-1 in the endoplasmic retic
PSEN1 C263F
MUTATIONS PSEN1 73664757 GRCh37/hg19 rs63751102 G T g.49973G> T g.66579G> T Exon 8 Point, Missense Coding Increased Aβ43 and the Aβ42/Aβ40 ratio; decreased Aβ38, Aβ40, and Aβ42. Unknown. AD-like CSF levels of Aβ40, Aβ42, Aβ43, tau, and phospho-tau in 3 of 4 c
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