Novel Association of the <i>Presenilin-1</i> (Leu282Arg) Mutation with Isolated Spastic Paraparesis: Case Presentation and Review of Current Evidence. [PDF]
De la Sen-Domínguez M +4 more
europepmc +1 more source
Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer's Disease. [PDF]
Xia Y, Liu X, Cui W, Zhi Q, Sun Y.
europepmc +1 more source
Spatiotemporal patterns of gliosis and neuroinflammation in presenilin 1/2 conditional double knockout mice. [PDF]
Peng W +5 more
europepmc +1 more source
GPI-1046 Increases Presenilin-1 Expression and Restores NMDA Channel Activity [PDF]
Joseph Steiner +7 more
openalex +1 more source
Presenilin-1 Familial Alzheimer Mutations Impair γ-Secretase Cleavage of APP Through Stabilized Enzyme-Substrate Complex Formation. [PDF]
Devkota S, Maesako M, Wolfe MS.
europepmc +1 more source
Familial Alzheimer's Disease Presenilin 1 Mutations Cause Alterations in the Conformation of Presenilin and Interactions with Amyloid Precursor Protein [PDF]
Oksana Berezovska +6 more
openalex +1 more source
More than a FAD: The In Vivo Effects of Disease-Linked Presenilin-1 Mutations [PDF]
Kathleen R. Zahs, Karen H. Ashe
openalex +1 more source
Mitochondrial dysfunction and Ca<sup>2+</sup> dysregulation in human iPSC-derived neurons carrying presenilin-1 mutation arise under stress via an MCU-1-independent mechanism. [PDF]
Wilson C +12 more
europepmc +1 more source
TCR activation stimulates regulated intramembrane proteolysis of L-selectin by presenilin 1 and localized proteasomal degradation of the cytoplasmic tail. [PDF]
Moon OR +8 more
europepmc +1 more source

