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。Relevance of a Truncated PRESENILIN 2 Transcript to Alzheimer's Disease and Neurodegeneration
Seyyed Hani Moussavi Nik et al.
JOURNAL OF ALZHEIMERS DISEASE (2021)
Tau aggregates are RNA-protein assemblies that mislocalize multiple nuclear speckle components
Evan Lester et al.
NEURON (2021)
Advance of sporadic Alzheimer's disease animal models
Lili Zhang et al.
MEDICINAL RESEARCH REVIEWS (2020)
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2
Simon Hsu et al.
NEUROBIOLOGY OF DISEASE (2020)
Early-Onset Familial Alzheimer Disease Variant PSEN2 N141I Heterozygosity is Associated with Altered Microglia Phenotype
Susan Fung et al.
JOURNAL OF ALZHEIMERS DISEASE (2020)
The GTEx Consortium atlas of genetic regulatory effects across human tissues
Francois Aguet et al.
SCIENCE (2020)
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease
Jacquelyn E. Braggin et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2019)
The Landscape of SNCA Transcripts Across Synucleinopathies: New Insights From Long Reads Sequencing Analysis
Elizabeth Tseng et al.
FRONTIERS IN GENETICS (2019)
Religious Orders Study and Rush Memory and Aging Project
David A. Bennett et al.
JOURNAL OF ALZHEIMERS DISEASE (2018)
The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer's disease
Minghui Wang et al.
SCIENTIFIC DATA (2018)
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
Helene-Marie Lanoiselee et al.
PLOS MEDICINE (2017)
Alzheimer's-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions
Maria Szaruga et al.
CELL (2017)
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
Gael Nicolas et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Molecular genetics of early-onset Alzheimer's disease revisited
Rita Cacace et al.
ALZHEIMERS & DEMENTIA (2016)
Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool
Ragna Sannerud et al.
CELL (2016)
Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants
Cornelis Blauwendraat et al.
NEUROBIOLOGY OF AGING (2016)
Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Ab Peptide Seeds
Sarah Veugelen et al.
NEURON (2016)
Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases
Mariet Allen et al.
SCIENTIFIC DATA (2016)
Alzheimer's disease-related peptide PS2V plays ancient, conserved roles in suppression of the unfolded protein response under hypoxia and stimulation of γ-secretase activity
Seyyed Hani Moussavi Nik et al.
HUMAN MOLECULAR GENETICS (2015)
Alzheimer's disease
Colin L. Masters et al.
NATURE REVIEWS DISEASE PRIMERS (2015)
A Novel Presenilin 1 Mutation in Early-Onset Alzheimer's Disease With Prominent Frontal Features
Haakon B. Nygaard et al.
AMERICAN JOURNAL OF ALZHEIMERS DISEASE AND OTHER DEMENTIAS (2014)
Alzheimer Presenilin-1 Mutations Dramatically Reduce Trimming of Long Amyloid β-Peptides (Aβ) by γ-Secretase to Increase 42-to-40-Residue Aβ
Marty A. Fernandez et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
Presenilin 2 influences miR146 level and activity in microglia
Suman Jayadev et al.
JOURNAL OF NEUROCHEMISTRY (2013)
The genetics and neuropathology of Alzheimer's disease
Gerard D. Schellenberg et al.
ACTA NEUROPATHOLOGICA (2012)
The mechanism of γ-Secretase dysfunction in familial Alzheimer disease
Lucia Chavez-Gutierrez et al.
EMBO JOURNAL (2012)
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
C. Pottier et al.
MOLECULAR PSYCHIATRY (2012)
Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families
Carlos Cruchaga et al.
PLOS ONE (2012)
The response of HMGA1 to changes in oxygen availability is evolutionarily conserved
Seyyed Hani Moussavi Nik et al.
EXPERIMENTAL CELL RESEARCH (2011)
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2
Suman Jayadev et al.
BRAIN (2010)
Neuropathology of variants of progressive supranuclear palsy
Dennis W. Dickson et al.
CURRENT OPINION IN NEUROLOGY (2010)
Presenilin 2 Is the Predominant γ-Secretase in Microglia and Modulates Cytokine Release
Suman Jayadev et al.
PLOS ONE (2010)
γ-Secretase Gene Mutations in Familial Acne Inversa
Baoxi Wang et al.
SCIENCE (2010)
ADAR editing in double-stranded UTRs and other noncoding RNA sequences
Heather A. Hundley et al.
TRENDS IN BIOCHEMICAL SCIENCES (2010)
C-elegans and H-sapiens mRNAs with edited 3′ UTRs are present on polysomes
Heather A. Hundley et al.
RNA (2008)
Loss-of-function presenilin mutations in Alzheimer disease - Talking Point on the role of presenilin mutations in Alzheimer disease
Bart De Strooper
EMBO REPORTS (2007)
Neurovascular regulation in the normal brain and in Alzheimer's disease
C Iadecola
NATURE REVIEWS NEUROSCIENCE (2004)
Expression of truncated presenilin 2 splice variant in Alzheimer's disease, bipolar disorder, and schizophrenia brain cortex
MJ Smith et al.
MOLECULAR BRAIN RESEARCH (2004)
Induced HMGA1a expression causes aberrant splicing of Presenilin-2 pre-mRNA in sporadic Alzheimer's disease
T Manabe et al.
CELL DEATH AND DIFFERENTIATION (2003)
Dementia and Alzheimer disease incidence - A prospective cohort study
WA Kukull et al.
ARCHIVES OF NEUROLOGY (2002)