Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations
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Title
Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations
Authors
Keywords
-
Journal
Alzheimers Research & Therapy
Volume 12, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-09-11
DOI
10.1186/s13195-020-00676-5
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Note: Only part of the references are listed.- Reduced Influence of apoE on Aβ43 Aggregation and Reduced Vascular Aβ43 Toxicity as Compared with Aβ40 and Aβ42
- (2020) Lieke Jäkel et al. MOLECULAR NEUROBIOLOGY
- The Alzheimer Disease-Causing Presenilin-1 L435F Mutation Causes Increased Production of Soluble Aβ43 Species in Patient-Derived iPSC-Neurons, Closely Mimicking Matched Patient Brain Tissue
- (2020) Derek H Oakley et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2
- (2020) Simon Hsu et al. NEUROBIOLOGY OF DISEASE
- Secreted amyloid-β precursor protein functions as a GABABR1a ligand to modulate synaptic transmission
- (2019) Heather C. Rice et al. SCIENCE
- Familial Alzheimer’s disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta
- (2019) Charles Arber et al. MOLECULAR PSYCHIATRY
- Aβ34 is a BACE1-derived degradation intermediate associated with amyloid clearance and Alzheimer’s disease progression
- (2019) Filip Liebsch et al. Nature Communications
- Aβ43 in human Alzheimer’s disease: effects of active Aβ42 immunization
- (2019) Lieke Jäkel et al. Acta Neuropathologica Communications
- Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms
- (2018) Carlos Cruchaga et al. Alzheimers & Dementia
- Minimap2: pairwise alignment for nucleotide sequences
- (2018) Heng Li BIOINFORMATICS
- Cerebrospinal Fluid Biomarkers for Early and Differential Alzheimer’s Disease Diagnosis
- (2018) Maria Bjerke et al. JOURNAL OF ALZHEIMERS DISEASE
- Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis
- (2018) Federica Perrone et al. NEUROBIOLOGY OF AGING
- Longitudinal Stability of Cerebrospinal Fluid Biomarker Levels: Fulfilled Requirement for Pharmacodynamic Markers in Alzheimer's Disease
- (2018) Nathalie Le Bastard et al. JOURNAL OF ALZHEIMERS DISEASE
- Asymptomatic Carriers of Presenilin-1 E318G Variant Show no Cerebrospinal Fluid Biochemical Signs Suggestive of Alzheimer’s disease in a Family with Late-onset Dementia
- (2018) Vladimiro Artuso et al. Current Alzheimer Research
- Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series
- (2018) C. Koriath et al. MOLECULAR PSYCHIATRY
- BACE1 Dynamics Upon Inhibition with a BACE Inhibitor and Correlation to Downstream Alzheimer’s Disease Markers in Elderly Healthy Participants
- (2017) Maarten Timmers et al. JOURNAL OF ALZHEIMERS DISEASE
- Cerebrospinal Fluid Aβ43 Is Reduced in Early-Onset Compared to Late-Onset Alzheimer’s Disease, But Has Similar Diagnostic Accuracy to Aβ42
- (2017) Camilla Lauridsen et al. Frontiers in Aging Neuroscience
- Molecular genetics of early-onset Alzheimer's disease revisited
- (2016) Rita Cacace et al. Alzheimers & Dementia
- Presenilin E318G variant and Alzheimer’s disease risk: the Cache County study
- (2016) Ariel A. Hippen et al. BMC GENOMICS
- Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer’s disease
- (2016) Kwangsik Nho et al. BMC Medical Genomics
- Generation and deposition of Aβ43 by the virtually inactive presenilin‐1 L435F mutant contradicts the presenilin loss‐of‐function hypothesis of Alzheimer's disease
- (2016) Benedikt Kretner et al. EMBO Molecular Medicine
- CSF and blood biomarkers for the diagnosis of Alzheimer's disease: a systematic review and meta-analysis
- (2016) Bob Olsson et al. LANCET NEUROLOGY
- 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
- Cerebrospinal Fluid Levels of Amyloid Beta 1–43 in Patients with Amnestic Mild Cognitive Impairment or Early Alzheimer’s Disease: A 2-Year Follow-Up Study
- (2016) Camilla Lauridsen et al. Frontiers in Aging Neuroscience
- Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family
- (2015) M. E. Conidi et al. NEUROLOGY
- Acute function of secreted amyloid precursor protein fragment APPsα in synaptic plasticity
- (2014) Meike Hick et al. ACTA NEUROPATHOLOGICA
- A Novel Presenilin 1 Mutation in Early-Onset Alzheimer’s Disease With Prominent Frontal Features
- (2014) Haakon B. Nygaard et al. American Journal of Alzheimers Disease and Other Dementias
- 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
- Aβ43 Is the Earliest-Depositing Aβ Species in APP Transgenic Mouse Brain and Is Converted to Aβ41 by Two Active Domains of ACE
- (2013) Kun Zou et al. AMERICAN JOURNAL OF PATHOLOGY
- The Diagnostic Value of CSF Amyloid-β43 in Differentiation of Dementia Syndromes
- (2013) Kim Bruggink et al. Current Alzheimer Research
- Characterization of Intermediate Steps in Amyloid Beta (Aβ) Production under Near-native Conditions
- (2013) Fredrik Olsson et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The Pathogenic Aβ43 Is Enriched in Familial and Sporadic Alzheimer Disease
- (2013) Anna Sandebring et al. PLoS One
- The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers
- (2013) Bruno A. Benitez et al. PLoS Genetics
- National Institute on Aging–Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease
- (2012) Bradley T. Hyman et al. Alzheimers & Dementia
- Cerebrospinal Fluid Levels ofβ-Amyloid 1-42, but Not of Tau, Are Fully Changed Already 5 to 10 Years Before the Onset of Alzheimer Dementia
- (2012) Peder Buchhave ARCHIVES OF GENERAL PSYCHIATRY
- The mechanism of γ-Secretase dysfunction in familial Alzheimer disease
- (2012) Lucía Chávez-Gutiérrez et al. EMBO JOURNAL
- Altered γ-secretase activity in mild cognitive impairment and Alzheimer's disease
- (2012) Nobuto Kakuda et al. EMBO Molecular Medicine
- Locus-specific mutation databases for neurodegenerative brain diseases
- (2012) Marc Cruts et al. HUMAN MUTATION
- Familial Frontotemporal Dementia-Associated Presenilin-1 c.548G>T Mutation Causes Decreased mRNA Expression and Reduced Presenilin Function in Knock-In Mice
- (2012) H. Watanabe et al. JOURNAL OF NEUROSCIENCE
- Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families
- (2012) Carlos Cruchaga et al. PLoS One
- 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
- Potent amyloidogenicity and pathogenicity of Aβ43
- (2011) Takashi Saito et al. NATURE NEUROSCIENCE
- Aβ43 is more frequent than Aβ40 in amyloid plaque cores from Alzheimer disease brains
- (2009) Hedvig Welander et al. JOURNAL OF NEUROCHEMISTRY
- Molecular genetics of Alzheimer's disease: An update
- (2008) Nathalie Brouwers et al. ANNALS OF 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
- Invited Article: The Alzheimer disease-frontotemporal lobar degeneration spectrum
- (2008) J. van der Zee et al. NEUROLOGY
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