Understanding the roles of mutations in the amyloid precursor protein in Alzheimer disease

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds

(2017) Kilan Le Guennec et al.   NEUROBIOLOGY OF DISEASE

Presenilin-1 mutations and Alzheimer’s disease

(2017) Raymond J. Kelleher et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

(2017) Hélène-Marie Lanoiselée et al.   PLOS MEDICINE

Phosphorylated Tau: Toxic, Protective, or None of the Above

(2017) Rudy J. Castellani et al.   JOURNAL OF ALZHEIMERS DISEASE

AβPP A713T Mutation in Late Onset Alzheimer's Disease with Cerebrovascular Lesions

(2017) Livia Bernardi et al.   JOURNAL OF ALZHEIMERS DISEASE

Novel T719P AβPP Mutation Unbalances the Relative Proportion of Amyloid-β Peptides

(2017) Roberta Ghidoni et al.   JOURNAL OF ALZHEIMERS DISEASE

Neuropathological Correlates of Dementia in Over-80-Year-Old Brain Donors from the Population-Based Cambridge City over-75s Cohort (CC75C) Study

(2017) Carol Brayne et al.   JOURNAL OF ALZHEIMERS DISEASE

Preclinical Alzheimer's disease: Definition, natural history, and diagnostic criteria

(2016) Bruno Dubois et al.   Alzheimers & Dementia

A Greek Tragedy: The Growing Complexity of Alzheimer Amyloid Precursor Protein Proteolysis

(2016) Robert J. Andrew et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer’s disease: a case series

(2016) Natalie S Ryan et al.   LANCET NEUROLOGY

NIA-AA staging of preclinical Alzheimer disease: discordance and concordance of CSF and imaging biomarkers

(2016) Stephanie J.B. Vos et al.   NEUROBIOLOGY OF AGING

Familial Alzheimer’s Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds

(2016) Sarah Veugelen et al.   NEURON

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase

(2016) Linfeng Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Solanezumab and the amyloid hypothesis for Alzheimer’s disease

(2016) David G Le Couteur et al.   BMJ-British Medical Journal

Solanezumab and the amyloid hypothesis for Alzheimer’s disease

(2016) David G Le Couteur et al.   BMJ-British Medical Journal

Guidelines for the standardization of preanalytic variables for blood-based biomarker studies in Alzheimer's disease research

(2015) Sid E. O'Bryant et al.   Alzheimers & Dementia

Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease

(2015) Eva C Schulte et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Snark was a Boojum - reloaded

(2015) Simone Macrì et al.   Frontiers in Zoology

Sequential Amyloid-β Degradation by the Matrix Metalloproteases MMP-2 and MMP-9

(2015) Mar Hernandez-Guillamon et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuroinflammation in Alzheimer's disease

(2015) Michael T Heneka et al.   LANCET NEUROLOGY

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

(2015) A Rovelet-Lecrux et al.   MOLECULAR PSYCHIATRY

η-Secretase processing of APP inhibits neuronal activity in the hippocampus

(2015) Michael Willem et al.   NATURE

Statistics: P values are just the tip of the iceberg

(2015) Jeffrey T. Leek et al.   NATURE

Decreased amyloid-β and increased neuronal hyperactivity by immunotherapy in Alzheimer's models

(2015) Marc Aurel Busche et al.   NATURE NEUROSCIENCE

Immune attack: the role of inflammation in Alzheimer disease

(2015) Frank L. Heppner et al.   NATURE REVIEWS NEUROSCIENCE

Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family

(2015) M. E. Conidi et al.   NEUROLOGY

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

(2015) Dan Xia et al.   NEURON

APP Metabolism Regulates Tau Proteostasis in Human Cerebral Cortex Neurons

(2015) Steven Moore et al.   Cell Reports

Alterations in Immune Cells and Mediators in the Brain: It's Not Always Neuroinflammation!

(2014) Myka L. Estes et al.   BRAIN PATHOLOGY

Longitudinal Inflammation, Cognitive Decline, and Alzheimer’s Disease: A Mini-Review

(2014) B M Bettcher et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons

(2014) Christina R. Muratore et al.   HUMAN MOLECULAR GENETICS

A systematic review of amyloid-β peptides as putative mediators of the association between affective disorders and Alzheimer׳s disease

(2014) Leda Abbasowa et al.   JOURNAL OF AFFECTIVE DISORDERS

Alzheimer Presenilin-1 Mutations Dramatically Reduce Trimming of Long Amyloid β-Peptides (Aβ) by γ-Secretase to Increase 42-to-40-Residue Aβ

(2014) Marty A. Fernandez et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Alzheimer Disease Protective Mutation A2T Modulates Kinetic and Thermodynamic Properties of Amyloid-β (Aβ) Aggregation

(2014) Iryna Benilova et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Differential regulation of amyloid precursor protein sorting with pathological mutations results in a distinct effect on amyloid-β production

(2014) Yen-Chen Lin et al.   JOURNAL OF NEUROCHEMISTRY

Investigating the role of rare coding variability in Mendelian dementia genes ( APP , PSEN1 , PSEN2 , GRN , MAPT , and PRNP ) in late-onset Alzheimer's disease

(2014) Celeste Sassi et al.   NEUROBIOLOGY OF AGING

Altered Cerebrospinal Fluid Levels of Amyloid β and Amyloid Precursor-Like Protein 1 Peptides in Down’s Syndrome

(2014) Erik Portelius et al.   NEUROMOLECULAR MEDICINE

Diurnal Patterns of Soluble Amyloid Precursor Protein Metabolites in the Human Central Nervous System

(2014) Justyna A. Dobrowolska et al.   PLoS One

Atypical aging in down syndrome

(2013) Warren B. Zigman   Developmental Disabilities Research Reviews

A novel APP mutation (D678H) in a Taiwanese patient exhibiting dementia and cerebral microvasculopathy

(2013) Min-Yu Lan et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Autosomal-dominant Alzheimer's disease mutations at the same codon of amyloid precursor protein differentially alter Aβ production

(2013) Marc Suárez-Calvet et al.   JOURNAL OF NEUROCHEMISTRY

Tau pathology and neurodegeneration

(2013) Maria Grazia Spillantini et al.   LANCET NEUROLOGY

The Senescence Hypothesis of Disease Progression in Alzheimer Disease: an Integrated Matrix of Disease Pathways for FAD and SAD

(2013) Sally Hunter et al.   MOLECULAR NEUROBIOLOGY

Function and Dysfunction of Presenilin

(2013) Jie Shen   Neurodegenerative Diseases

Evaluation of Excess Significance Bias in Animal Studies of Neurological Diseases

(2013) Konstantinos K. Tsilidis et al.   PLOS BIOLOGY

The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers

(2013) Bruno A. Benitez et al.   PLoS Genetics

APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38

(2012) Maria Luisa Moro et al.   ACTA NEUROPATHOLOGICA

Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease

(2012) Marta Pera et al.   ACTA NEUROPATHOLOGICA

National Institute on Aging–Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease

(2012) Bradley T. Hyman et al.   Alzheimers & Dementia

Tau oligomers and tau toxicity in neurodegenerative disease

(2012) Sarah M. Ward et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Novel AβIsoforms in Alzheimer's Disease - Their Role in Diagnosis and Treatment

(2012) Erik Portelius et al.   CURRENT PHARMACEUTICAL DESIGN

Novel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers

(2012) Daniela Kaden et al.   EMBO Molecular Medicine

Locus-specific mutation databases for neurodegenerative brain diseases

(2012) Marc Cruts et al.   HUMAN MUTATION

Tau Oligomers Impair Artificial Membrane Integrity and Cellular Viability

(2012) Katharina Flach et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular Dynamics Simulations to Investigate the Aggregation Behaviors of the Aß(17–42) Oligomers

(2012) Jian-Hua Zhao et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

(2012) Thorlakur Jonsson et al.   NATURE

Raise standards for preclinical cancer research

(2012) C. Glenn Begley et al.   NATURE

Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort

(2012) Valerija Dobricic et al.   NEUROBIOLOGY OF AGING

Role of common and rare APP DNA sequence variants in Alzheimer disease

(2012) B. V. Hooli et al.   NEUROLOGY

Amyloid-Beta (Aβ) D7H Mutation Increases Oligomeric Aβ42 and Alters Properties of Aβ-Zinc/Copper Assemblies

(2012) Wei-Ting Chen et al.   PLoS One

Can Alzheimer Disease Be a Form of Type 3 Diabetes?

(2012) Giulia Accardi et al.   REJUVENATION RESEARCH

Relationships between the amyloid precursor protein and its various proteolytic fragments and neuronal systems

(2012) Sally Hunter et al.   Alzheimers Research & Therapy

Introduction to the recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease

(2011) Clifford R. Jack et al.   Alzheimers & Dementia

The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease

(2011) Guy M. McKhann et al.   Alzheimers & Dementia

Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β′-site increases Aβ generation

(2011) Lujia Zhou et al.   EMBO Molecular Medicine

Intraneuronal amyloid β oligomers cause cell death via endoplasmic reticulum stress, endosomal/lysosomal leakage, and mitochondrial dysfunction in vivo

(2011) Tomohiro Umeda et al.   JOURNAL OF NEUROSCIENCE RESEARCH

APP processing in Alzheimer's disease

(2011) Yun-wu Zhang et al.   Molecular Brain

Roles of amyloid precursor protein family members in neuroprotection, stress signaling and aging

(2011) Donat Kögel et al.   EXPERIMENTAL BRAIN RESEARCH

Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features

(2010) Giorgio Giaccone et al.   ACTA NEUROPATHOLOGICA

Pure Progressive Amnesia and the APPV717G Mutation

(2010) William D. Knight et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

The Revitalized Tau Hypothesis on Alzheimer's Disease

(2010) Ricardo B. Maccioni et al.   ARCHIVES OF MEDICAL RESEARCH

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

(2010) Orso Bugiani et al.   ARCHIVES OF NEUROLOGY

Correlating familial Alzheimer’s disease gene mutations with clinical phenotype

(2010) Natalie S Ryan et al.   Biomarkers in Medicine

Time for a Change in the Research Paradigm for Alzheimer's Disease: The Value of a Chaotic Matrix Modeling Approach

(2010) Sally Hunter et al.   CNS Neuroscience & Therapeutics

A Presenilin-1 Mutation Identified in Familial Alzheimer Disease with Cotton Wool Plaques Causes a Nearly Complete Loss of γ-Secretase Activity

(2010) Elizabeth A. Heilig et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

sAPPα antagonizes dendritic degeneration and neuron death triggered by proteasomal stress

(2010) Ekaterini Copanaki et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Truncated  -amyloid peptide channels provide an alternative mechanism for Alzheimer's Disease and Down syndrome

(2010) H. Jang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

 -Secretase and Human Disease

(2010) R. J. Kelleher et al.   SCIENCE

Variations in the neuropathology of familial Alzheimer’s disease

(2009) Claire Shepherd et al.   ACTA NEUROPATHOLOGICA

Assessment of β-amyloid deposits in human brain: a study of the BrainNet Europe Consortium

(2009) Irina Alafuzoff et al.   ACTA NEUROPATHOLOGICA

Polymorphism of Alzheimer's Aβ17-42 (p3) Oligomers: The Importance of the Turn Location and Its Conformation

(2009) Yifat Miller et al.   BIOPHYSICAL JOURNAL

Clinical, Neuropathologic, and Biochemical Profile of the Amyloid Precursor Protein I716F Mutation

(2009) Cristina Guardia-Laguarta et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mutations in amyloid precursor protein affect its interactions with presenilin/γ-secretase

(2009) Lauren Herl et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Comparison of Aβ levels in the brain of familial and sporadic Alzheimer's disease

(2009) E. Hellström-Lindahl et al.   NEUROCHEMISTRY INTERNATIONAL

Soluble Oligomers of Amyloid β Protein Facilitate Hippocampal Long-Term Depression by Disrupting Neuronal Glutamate Uptake

(2009) Shaomin Li et al.   NEURON

Age, Neuropathology, and Dementia

(2009) George M. Savva et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2009) G. Di Fede et al.   SCIENCE

Cytoskeletal alterations differentiate presenilin-1 and sporadic Alzheimer’s disease

(2008) Adele Woodhouse et al.   ACTA NEUROPATHOLOGICA

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

SYMPOSIUM: Clearance of Aβ from the Brain in Alzheimer's Disease: Aβ-Degrading Enzymes in Alzheimer's Disease

(2008) James Scott Miners et al.   BRAIN PATHOLOGY

Identification of PSEN1 and APP Gene Mutations in Korean Patients with Early-Onset Alzheimer's Disease

(2008) Hyun-Kyung Park et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

(2008) Suzanne Granhøj Lindquist et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations

(2008) Chera L Maarouf et al.   Molecular Neurodegeneration

Amyloid-β protein dimers isolated directly from Alzheimer's brains impair synaptic plasticity and memory

(2008) Ganesh M Shankar et al.   NATURE MEDICINE

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

Endogenous secreted amyloid precursor protein-α regulates hippocampal NMDA receptor function, long-term potentiation and spatial memory

(2008) Chanel J. Taylor et al.   NEUROBIOLOGY OF DISEASE

Charge Alterations of E22 Enhance the Pathogenic Properties of the Amyloid β-Protein

(2003) Jerry P. Melchor et al.   JOURNAL OF NEUROCHEMISTRY