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

Two Novel Mutations in the First Transmembrane Domain of Presenilin1 Cause Young-Onset Alzheimer's Disease.

Journal of Alzheimer's disease : JAD - 1 Jan 2017

Liu Collin Y, Ohki Yu, Tomita Taisuke, Osawa Satoko, Reed Bruce R, Jagust William, Van Berlo Victoria, Jin Lee-Way, Chui Helena C, Coppola Giovanni, Ringman John M

Abstract excerpt

BACKGROUND: The presenilin-1 protein (PS1) is the catalytic unit of γ-secretase implicated in the production of abnormally long forms of amyloid-β (Aβ), including Aβ42, proteins thought critical in the pathogenesis of Alzheimer's disease (AD). In AD of autosomal dominant inheritance, the majority of pathogenic mutations have been found in the PSEN1 gene within which the location of the mutation can provide clues...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Alzheimer Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amyloid beta-Protein Precursor

Share to Autopsy

Share to Disease Progression

Share to Magnetic Resonance Imaging

Share to Mutation

Share to Presenilin-1

Source

Identifiers

PMID: 28550247
DOI: 10.3233/JAD-161203

Genes

PSEN1
APP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two Novel Mutations in the First Transmembrane Domain of Presenilin1 Cause Young-Onset Alzheimer's Disease.PMID 28550247Read ↗

Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.Semantic proximity Read ↗

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

Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.Semantic proximity Read ↗

A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.Semantic proximity Read ↗

Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy.Semantic proximity Read ↗

A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling.Semantic proximity Read ↗

Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life.Semantic proximity Read ↗

Alzheimer presenilin-1 mutations dramatically reduce trimming of long amyloid β-peptides (Aβ) by γ-secretase to increase 42-to-40-residue Aβ.Semantic proximity Read ↗

The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer’s DiseaseSemantic proximity Read ↗

Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene.Semantic proximity Read ↗

A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.Semantic proximity Read ↗

Amyloid precursor protein mutation E682K at the alternative β‐secretase cleavage β′‐site increases Aβ generation†Semantic proximity Read ↗

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