Unknown

Dataset Information

0

PLD3 Rare Variants Identified in Late-Onset Alzheimer's Disease Affect Amyloid-? Levels in Cellular Model.

ABSTRACT: Next-generation sequencing studies have reported that rare variants in PLD3 were associated with increased risk of late-onset Alzheimer's disease (LOAD) in European cohorts. The association has been replicated in a Han Chinese cohort, two rare variants p.I163M in exon7 and p.R356H in exon11 of PLD3 were found to be associated with LOAD risk. Whether these variants have deleterious effects on protein function, and the underlying mechanisms by which they influence LOAD pathogenesis are unknown. Our results are the first to validate the hypothesis that these variants could lead to reduced PLD3 activity and affect amyloid-? levels in cellular model of AD, possibly via autophagy-dependent mTOR signaling pathway, indicating that PLD3 may represent a new therapeutic target for AD.

SUBMITTER: Tan M 

PROVIDER: S-EPMC6382672 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

<i>PLD3</i> Rare Variants Identified in Late-Onset Alzheimer's Disease Affect Amyloid-β Levels in Cellular Model.

Tan Mengshan M   Li Jieqiong J   Ma Fangchen F   Zhang Xing X   Zhao Qingfei Q   Cao Xipeng X  

Frontiers in neuroscience 20190214

Next-generation sequencing studies have reported that rare variants in <i>PLD3</i> were associated with increased risk of late-onset Alzheimer's disease (LOAD) in European cohorts. The association has been replicated in a Han Chinese cohort, two rare variants p.I163M in exon7 and p.R356H in exon11 of <i>PLD3</i> were found to be associated with LOAD risk. Whether these variants have deleterious effects on protein function, and the underlying mechanisms by which they influence LOAD pathogenesis a  ...[more]

Similar Datasets

Unknown Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease.
| S-EPMC4785568 | biostudies-literature
Unknown Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.
| S-EPMC5057316 | biostudies-literature
Unknown Common Variants in PLD3 and Correlation to Amyloid-Related Phenotypes in Alzheimer's Disease.
| S-EPMC6312181 | biostudies-literature
Unknown Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
| S-EPMC3270040 | biostudies-literature
Unknown SORL1 variants and risk of late-onset Alzheimer's disease.
| S-EPMC2323581 | biostudies-literature
Unknown Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.
| S-EPMC5072721 | biostudies-literature
Unknown The effect of rare variants in TREM2 and PLD3 on longitudinal cognitive function in the Wisconsin Registry for Alzheimer's Prevention.
| S-EPMC5924624 | biostudies-literature
Unknown Early striatal amyloid deposition distinguishes Down syndrome and autosomal dominant Alzheimer's disease from late-onset amyloid deposition.
| S-EPMC5994364 | biostudies-literature
Unknown Late-onset Alzheimer's risk variants in memory decline, incident mild cognitive impairment, and Alzheimer's disease.
| S-EPMC4268433 | biostudies-literature
Unknown Functional annotation of genomic variants in studies of late-onset Alzheimer's disease.
| S-EPMC6084586 | biostudies-literature