Discover Community Create You

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

Article

A novel presenilin 1 nucleotide mutation (M139I) and its pathological function in a Chinese family with early-onset Alzheimer's disease.

Journal of Alzheimer's disease : JAD - 1 Mar 2026

Li Xuening, Zhang Yameng, Shi Xinyan, Li Dacheng, Yang Wenzhi, Ma Aijun

Abstract excerpt

BackgroundThe majority of early-onset familial Alzheimer's disease is caused by mutations in the presenilin 1 (PSEN1) gene.ObjectiveTo investigate the pathogenic mechanism of the novel nucleotide mutations of the PSEN1 gene in early-onset familial Alzheimer's disease.MethodsWe describe a Chinese family with autosomal dominant early-onset Alzheimer's disease. Gene sequencing revealed that the 417th nucleotide in...

Read the complete abstract on PubMed

Topics

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

Share to Amyloid beta-Peptides
Share to Amyloid Precursor Protein Secretases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Aspartic Acid Endopeptidases

Share to East Asian People

Share to Endoplasmic Reticulum Stress

Share to Isoleucine

Share to Peptide Fragments

Share to Presenilin-1

Source

Identifiers

PMID: 41704171
DOI: 10.1177/13872877261418314

Genes

PSEN1
APP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel presenilin 1 nucleotide mutation (M139I) and its pathological function in a Chinese family with early-onset Alzheimer's disease.PMID 41704171Read ↗

Identification of a Pathogenic PSEN1 Ala285Val Mutation Associated with Early-Onset Alzheimer's Disease.Semantic proximity Read ↗

Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.Semantic proximity Read ↗

The identification of PSEN1 p.Tyr159Ser mutation in a non-canonic early-onset Alzheimer's disease family.Semantic proximity Read ↗

Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification.Semantic proximity Read ↗

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.Semantic proximity Read ↗

A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease.Semantic proximity Read ↗

Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease.Semantic proximity Read ↗

Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China.Semantic proximity Read ↗

Identification of the Third Case of PSEN1 Tyr389His Variant in Early-Onset Alzheimer's Disease in Korea.Semantic proximity Read ↗

Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: An APP Val551Met and a PSEN2 His169Asn.Semantic proximity Read ↗

Differential effects of PSEN1 mutations (p.P117L with ataxia and p.P264L without ataxia) in early-onset Alzheimer's disease.Semantic proximity Read ↗

PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.Semantic proximity Read ↗

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