Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation.

doi:10.3233/JAD-130119

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation.

Journal of Alzheimer's disease : JAD - 1 Jan 2013

Bernardi Livia, Gallo Maura, Anfossi Maria, Conidi Maria Elena, Colao Rosanna, Puccio Gianfranco, Curcio Sabrina A M, Frangipane Francesca, Clodomiro Alessandra, Mirabelli Maria, Vasso Franca, Smirne Nicoletta, Di Lorenzo Raffaele, Maletta Raffaele, Bruni Amalia C

Abstract excerpt

We investigated the association between TOMM40 rs10524523, age of onset, and memory performance in patients with the PSEN1 M146L mutation in a large familial Alzheimer's disease Calabrian kindred, with a wide variability of onset not attributable to APOE. APOE33/TOMM40VL/VL patients showed a tendency for an earlier age at onset compared to those with APOE33/TOMM40VL/S and APOE33/TOMM40S/S. Moreover, TOMM40VL/VL...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leucine

Share to Membrane Transport Proteins

Share to Memory Disorders

Share to Methionine

Share to Mitochondrial Precursor Protein Import Complex Proteins

Share to Neuropsychological Tests

Share to Presenilin-1

Source

Open in PubMed

Identifiers

PMID: 23792692
DOI: 10.3233/JAD-130119

Genes

PSEN1
TOMM40
APOE

Variants

rs10524523

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation.PMID 23792692Read ↗

TOMM40 rs10524523 polymorphism's role in late-onset Alzheimer's disease and in longevity.Semantic proximity Read ↗

Association Analysis of Polymorphisms in TOMM40, CR1, PVRL2, SORL1, PICALM, and 14q32.13 Regions in Colombian Alzheimer Disease Patients.Semantic proximity Read ↗

New Genetic Approaches to AD: Lessons from APOE-TOMM40 Phylogenetics.Semantic proximity Read ↗

Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation.Semantic proximity Read ↗

Association of TOMM40 polymorphisms with late-onset Alzheimer's disease in a Northern Han Chinese population.Semantic proximity Read ↗

The TOMM40 gene rs2075650 polymorphism contributes to Alzheimer's disease in Caucasian, and Asian populations.Semantic proximity Read ↗

TOMM40 and APOE: Requirements for replication studies of association with age of disease onset and enrichment of a clinical trial.Semantic proximity Read ↗

Potential Modifying Effect of the APOEε4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer's Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population.Semantic proximity Read ↗

A TOMM40/APOE allele encoding APOE-E3 predicts high likelihood of late-onset Alzheimer's disease in autopsy cases.Semantic proximity Read ↗

Alzheimer's disease cortical morphological phenotypes are associated with TOMM40'523-APOE haplotypes.Semantic proximity Read ↗

An inherited variable poly-T repeat genotype in TOMM40 in Alzheimer disease.Semantic proximity Read ↗

A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.