相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The Alzheimer's gene SORL1 is a regulator of endosomal traffic and recycling in human neurons
Swati Mishra et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2022)
A candidate gene of Alzheimer diseases was mutated in senescence-accelerated mouse prone (SAMP) 8 mice
Maruf Mohammad Akbor et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2021)
Matching Clinical Diagnosis and Amyloid Biomarkers in Alzheimer's Disease and Frontotemporal Dementia
Giulia Giacomucci et al.
JOURNAL OF PERSONALIZED MEDICINE (2021)
The role of NOTCH3 variants in Alzheimer's disease and subcortical vascular dementia in the Chinese population
Lina Guo et al.
CNS NEUROSCIENCE & THERAPEUTICS (2021)
The Notch pathway in CNS homeostasis and neurodegeneration
Diana M. Ho et al.
WILEY INTERDISCIPLINARY REVIEWS-DEVELOPMENTAL BIOLOGY (2020)
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series
C. Koriath et al.
MOLECULAR PSYCHIATRY (2020)
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2
Simon Hsu et al.
NEUROBIOLOGY OF DISEASE (2020)
Investigating diagnostic sequencing techniques for CADASIL diagnosis
P. J. Dunn et al.
HUMAN GENOMICS (2020)
Agreement of amyloid PET and CSF biomarkers for Alzheimer's disease on Lumipulse
Daniel Alcolea et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2019)
Restoring Wnt/β-catenin signaling is a promising therapeutic strategy for Alzheimer's disease
Lin Jia et al.
MOLECULAR BRAIN (2019)
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val 180Ile mutation
Eva Bagyinszky et al.
NEUROPSYCHIATRIC DISEASE AND TREATMENT (2019)
A pathogenic PSEN2 p.His 169Asn mutation associated with early-onset Alzheimer's disease
Vo Van Giau et al.
CLINICAL INTERVENTIONS IN AGING (2018)
Endocytic Adaptor Protein HIP1R Controls Intracellular Trafficking of Epidermal Growth Factor Receptor in Neuronal Dendritic Development
Qian Yang et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2018)
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase
Linfeng Sun et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa
J. W. Frew et al.
BRITISH JOURNAL OF DERMATOLOGY (2017)
Use of amyloid-PET to determine cutpoints for CSF markers A multicenter study
Marissa D. Zwan et al.
NEUROLOGY (2016)
Synthesis and evaluation of 6-(3-[18F]fluoro-2-hydroxypropyl)-substituted 2-pyridylbenzothiophenes and 2-pyridylbenzothiazoles as potential PET tracers for imaging Aβ plaques
Byoung Se Lee et al.
BIOORGANIC & MEDICINAL CHEMISTRY (2016)
Genetic Variations in ABCA7 Can Increase Secreted Levels of Amyloid-beta(40) and Amyloid-beta(42) Peptides and ABCA7 Transcription in Cell Culture Models
Michelle Bamji-Mirza et al.
JOURNAL OF ALZHEIMERS DISEASE (2016)
ABCA7 Deficiency Accelerates Amyloid-β Generation and Alzheimer's Neuronal Pathology
Nobutaka Sakae et al.
JOURNAL OF NEUROSCIENCE (2016)
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain
Dan Xia et al.
NEURON (2016)
Coding Mutations in SORL1 and Alzheimer Disease
Badri N. Vardarajan et al.
ANNALS OF NEUROLOGY (2015)
Alzheimer's Disease Risk Genes and Mechanisms of Disease Pathogenesis
Celeste M. Karch et al.
BIOLOGICAL PSYCHIATRY (2015)
ATP-binding Cassette Transporter A7 (ABCA7) Loss of Function Alters Alzheimer Amyloid Processing
Kanayo Satoh et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
Independent information from cerebrospinal fluid amyloid-β and florbetapir imaging in Alzheimer's disease
Niklas Mattsson et al.
BRAIN (2015)
Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing
Ryoichi Yagi et al.
NEUROBIOLOGY OF AGING (2014)
Deficiency in LRP6-Mediated Wnt Signaling Contributes to Synaptic Abnormalities and Amyloid Pathology in Alzheimer's Disease
Chia-Chen Liu et al.
NEURON (2014)
The genetics of Alzheimer's disease
Eva Bagyinszky et al.
CLINICAL INTERVENTIONS IN AGING (2014)
A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa
Y. Nomura et al.
BRITISH JOURNAL OF DERMATOLOGY (2013)
LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP6
Daniel C. Berwick et al.
HUMAN MOLECULAR GENETICS (2012)
Contribution of the γ-Secretase Subunits to the Formation of Catalytic Pore of Presenilin 1 Protein
Koji Takeo et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
Paul Hollingworth et al.
NATURE GENETICS (2011)
ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks
Gabriela Bindea et al.
BIOINFORMATICS (2009)
Mutational analysis in early-onset familial dementia in the Japanese population
Takeshi Ikeuchi et al.
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS (2008)
A novel PSEN2 mutation associated with a peculiar phenotype
P. Piscopo et al.
NEUROLOGY (2008)
Mutant presenilin 2 increased oxidative stress and p53 expression in neuronal cells
Hong Nga Nguyen et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2007)
Mutations of presenilin genes in dilated cardiomyopathy and heart failure
Duanxiang Li et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Functional characterization of novel presenilin-2 variants identified in human breast cancers
M. D. To et al.
ONCOGENE (2006)
Presenilin mutations linked to familial Alzheimer's disease reduce endoplasmic reticulum and Golgi apparatus calcium levels
Giancarlo Zatti et al.
CELL CALCIUM (2006)
A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease
A Ishikawa et al.
ANNALS OF NEUROLOGY (2005)
Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in A beta 42/40 ratios
ES Walker et al.
JOURNAL OF NEUROCHEMISTRY (2005)
Reduced β-amyloid production and increased inflammatory responses in presenilin conditional knock-out mice
V Beglopoulos et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Aβ42 production
T Moehlmann et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
分享论文
