Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease

The Japanese Mutant Aβ (ΔE22-Aβ1−39) Forms Fibrils Instantaneously, with Low-Thioflavin T Fluorescence: Seeding of Wild-Type Aβ1−40into Atypical Fibrils by ΔE22-Aβ1−39

(2011) Adam L. Cloe et al.   BIOCHEMISTRY

Presenilin-Dependent Receptor Processing Is Required for Axon Guidance

(2011) Ge Bai et al.   CELL

RETRACTED: Directed Conversion of Alzheimer's Disease Patient Skin Fibroblasts into Functional Neurons

(2011) Liang Qiang et al.   CELL

The Human Brain in a Dish: The Promise of iPSC-Derived Neurons

(2011) Ricardo Dolmetsch et al.   CELL

Generation of Isogenic Pluripotent Stem Cells Differing Exclusively at Two Early Onset Parkinson Point Mutations

(2011) Frank Soldner et al.   CELL

Attenuated Aβ42Responses to Low Potency γ-Secretase Modulators Can Be Overcome for Many Pathogenic Presenilin Mutants by Second-generation Compounds

(2011) Benedikt Kretner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Osaka FAD Mutation E22Δ Leads to the Formation of a Previously Unknown Type of Amyloid β Fibrils and Modulates Aβ Neurotoxicity

(2011) Oxana Yu. Ovchinnikova et al.   JOURNAL OF MOLECULAR BIOLOGY

Recombinase-Mediated Cassette Exchange (RMCE): Traditional Concepts and Current Challenges

(2011) Soeren Turan et al.   JOURNAL OF MOLECULAR BIOLOGY

A novel tumour-suppressor function for the Notch pathway in myeloid leukaemia

(2011) Apostolos Klinakis et al.   NATURE

Potent amyloidogenicity and pathogenicity of Aβ43

(2011) Takashi Saito et al.   NATURE NEUROSCIENCE

Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma

(2011) N. J. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Therapeutic Antibody Targeting BACE1 Inhibits Amyloid-  Production in Vivo

(2011) J. K. Atwal et al.   Science Translational Medicine

Novel Research Horizons for Presenilins and γ-Secretases in Cell Biology and Disease

(2010) Bart De Strooper et al.   Annual Review of Cell and Developmental Biology

Hereditary Cerebral Hemorrhage With Amyloidosis Associated With the E693K Mutation of APP

(2010) Orso Bugiani et al.   ARCHIVES OF NEUROLOGY

Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 Mutations

(2010) Ju-Hyun Lee et al.   CELL

β-Amyloid Precursor Protein Mutants Respond to γ-Secretase Modulators

(2010) Richard M. Page et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Presenilin-1 but not amyloid precursor protein mutations present in mouse models of Alzheimer’s disease attenuate the response of cultured cells to γ-secretase modulators regardless of their potency and structure

(2010) Stefanie Hahn et al.   JOURNAL OF NEUROCHEMISTRY

A Mouse Model of Amyloid   Oligomers: Their Contribution to Synaptic Alteration, Abnormal Tau Phosphorylation, Glial Activation, and Neuronal Loss In Vivo

(2010) T. Tomiyama et al.   JOURNAL OF NEUROSCIENCE

An APP inhibitory domain containing the Flemish mutation residue modulates γ-secretase activity for Aβ production

(2010) Yuan Tian et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

 -Secretase Gene Mutations in Familial Acne Inversa

(2010) B. Wang et al.   SCIENCE

ER Calcium and Alzheimer's Disease: In a State of Flux

(2010) M. P. Mattson   Science Signaling

E22Q-Mutant Aβ Peptide (AβDutch) Increases Vascular but Reduces Parenchymal Aβ Deposition

(2009) Martin C. Herzig et al.   AMERICAN JOURNAL OF PATHOLOGY

 -Secretase: Successive Tripeptide and Tetrapeptide Release from the Transmembrane Domain of  -Carboxyl Terminal Fragment

(2009) M. Takami et al.   JOURNAL OF NEUROSCIENCE

A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis

(2009) G. Di Fede et al.   SCIENCE

A new amyloid β variant favoring oligomerization in Alzheimer's-type dementia

(2008) Takami Tomiyama et al.   ANNALS OF NEUROLOGY

Clinical and Neuropathological Features of the Arctic APP Gene Mutation Causing Early-Onset Alzheimer Disease

(2008) Hans Basun et al.   ARCHIVES OF NEUROLOGY

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

Intramembrane Proteolysis of GXGD-type Aspartyl Proteases Is Slowed by a Familial Alzheimer Disease-like Mutation

(2008) Regina Fluhrer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Role of the familial Dutch mutation E22Q in the folding and aggregation of the 15-28 fragment of the Alzheimer amyloid-  protein

(2008) A. Baumketner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA