SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data
Massive parallel sequencing recently allowed the identification of three genes carrying a
higher burden of rare, protein-truncating and missense predicted damaging variants in …
higher burden of rare, protein-truncating and missense predicted damaging variants in …
Finding memo: versatile interactions of the VPS10p-Domain receptors in Alzheimer's disease
The family of VPS10p-Domain (D) receptors comprises five members named SorLA, Sortilin,
SorCS1, SorCS2 and SorCS3. While their physiological roles remain incompletely resolved …
SorCS1, SorCS2 and SorCS3. While their physiological roles remain incompletely resolved …
Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms
Objective To determine whether the extent of overlap of the genetic architecture among the
sporadic late-onset Alzheimer's Disease (sLOAD), familial late-onset AD (fLOAD), sporadic …
sporadic late-onset Alzheimer's Disease (sLOAD), familial late-onset AD (fLOAD), sporadic …
TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers
Background Low frequency coding variants in TREM2 are associated with Alzheimer
disease (AD) risk and cerebrospinal fluid (CSF) TREM2 protein levels are different between …
disease (AD) risk and cerebrospinal fluid (CSF) TREM2 protein levels are different between …
Association of rare coding mutations with Alzheimer disease and other dementias among adults of European ancestry
Importance Some of the unexplained heritability of Alzheimer disease (AD) may be due to
rare variants whose effects are not captured in genome-wide association studies because …
rare variants whose effects are not captured in genome-wide association studies because …
Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease
YS Yang, E Bagyinszky, SSA An - International Journal of Molecular …, 2023 - mdpi.com
In this manuscript, we introduced a French EOAD patient in Korea who carried the presenilin-
1 (PSEN1) Glu318Gly mutations with four possible risk variants, including sortilin-related …
1 (PSEN1) Glu318Gly mutations with four possible risk variants, including sortilin-related …
Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure
Background Alzheimer's disease (AD) is characterized by neuronal loss and astrocytosis in
the cerebral cortex. However, the specific effects that pathological mutations and coding …
the cerebral cortex. However, the specific effects that pathological mutations and coding …
Long-read transcript sequencing identifies differential isoform expression in the entorhinal cortex in a transgenic model of tau pathology
Increasing evidence suggests that alternative splicing plays an important role in Alzheimer's
disease (AD) pathology. We used long-read sequencing in combination with a novel …
disease (AD) pathology. We used long-read sequencing in combination with a novel …
Examination of the effect of rare variants in TREM2, ABI3, and PLCG2 in LOAD through multiple phenotypes
Background: Rare variants in PLCG2 (p. P522R), ABI3 (p. S209F), and TREM2 (p. R47H, p.
R62H) have been associated with late onset Alzheimer's disease (LOAD) risk in …
R62H) have been associated with late onset Alzheimer's disease (LOAD) risk in …
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease
Alzheimer disease (AD), Frontotemporal lobar degeneration (FTD), Amyotrophic lateral
sclerosis (ALS) and Parkinson disease (PD) have a certain degree of clinical, pathological …
sclerosis (ALS) and Parkinson disease (PD) have a certain degree of clinical, pathological …