Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID

Evolved Cas9 variants with broad PAM compatibility and high DNA specificity

(2018) Johnny H. Hu et al.   NATURE

Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage

(2017) Nicole M. Gaudelli et al.   NATURE

Targeted base editing in rice and tomato using a CRISPR-Cas9 cytidine deaminase fusion

(2017) Zenpei Shimatani et al.   NATURE BIOTECHNOLOGY

Increasing the genome-targeting scope and precision of base editing with engineered Cas9-cytidine deaminase fusions

(2017) Y Bill Kim et al.   NATURE BIOTECHNOLOGY

Highly efficient RNA-guided base editing in mouse embryos

(2017) Kyoungmi Kim et al.   NATURE BIOTECHNOLOGY

Improved base excision repair inhibition and bacteriophage Mu Gam protein yields C:G-to-T:A base editors with higher efficiency and product purity

(2017) Alexis C. Komor et al.   Science Advances

The amyloid hypothesis of Alzheimer's disease at 25 years

(2016) Dennis J Selkoe et al.   EMBO Molecular Medicine

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

(2016) Alexis C. Komor et al.   NATURE

Targeted nucleotide editing using hybrid prokaryotic and vertebrate adaptive immune systems

(2016) K. Nishida et al.   SCIENCE

Orthogonal gene knockout and activation with a catalytically active Cas9 nuclease

(2015) James E Dahlman et al.   NATURE BIOTECHNOLOGY

Presenilin-1 Knockin Mice Reveal Loss-of-Function Mechanism for Familial Alzheimer’s Disease

(2015) Dan Xia et al.   NEURON

Murine Aβ over-production produces diffuse and compact Alzheimer-type amyloid deposits

(2015) Guilian Xu et al.   Acta Neuropathologica Communications

Cas-OFFinder: a fast and versatile algorithm that searches for potential off-target sites of Cas9 RNA-guided endonucleases

(2014) S. Bae et al.   BIOINFORMATICS

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Single App knock-in mouse models of Alzheimer's disease

(2014) Takashi Saito et al.   NATURE NEUROSCIENCE

Alzheimer’s Disease Genetics: From the Bench to the Clinic

(2014) Celeste M. Karch et al.   NEURON

COSMID: A Web-based Tool for Identifying and Validating CRISPR/Cas Off-target Sites

(2014) Thomas J Cradick et al.   Molecular Therapy-Nucleic Acids

Structural Biology of Presenilins and Signal Peptide Peptidases

(2013) Taisuke Tomita et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Psen1-L166P-knock-in mutation leads to amyloid deposition in human wild-type amyloid precursor protein YAC transgenic mice

(2012) Ruben Vidal et al.   FASEB JOURNAL

Potent amyloidogenicity and pathogenicity of Aβ43

(2011) Takashi Saito et al.   NATURE NEUROSCIENCE

Enzymatic Characteristics of I213T Mutant Presenilin-1/γ-Secretase in Cell Models and Knock-in Mouse Brains

(2008) Masafumi Shimojo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The C-Terminal PAL Motif and Transmembrane Domain 9 of Presenilin 1 Are Involved in the Formation of the Catalytic Pore of the  -Secretase

(2008) C. Sato et al.   JOURNAL OF NEUROSCIENCE

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

(2008) Rita Joao Guerreiro et al.   NEUROBIOLOGY OF AGING