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

Negative evidence for a role of APH1B T27I variant in Alzheimer's disease.

Human molecular genetics - 15 Apr 2020

Zhang Xulun, Zhang Can, Prokopenko Dmitry, Liang Yingxia, Han Weinong, Tanzi Rudolph E, Sisodia Sangram S

Abstract excerpt

γ-secretase is a macromolecular complex that catalyzes intramembranous hydrolysis of more than 100 membrane-bound substrates. The complex is composed of presenilin (PS1 or PS2), anterior pharynx defect-1 (APH-1), nicastrin (NCT) and PEN-2 and early-onset; autosomal dominant forms of Alzheimer's disease (AD) are caused by inheritance of mutations of PS. No mutations in genes encoding NCT, or PEN-2 have been...

Read the complete abstract on PubMed

Topics

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

Share to Alzheimer Disease
Share to Amyloid Precursor Protein Secretases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endopeptidases

Share to HEK293 Cells

Share to Membrane Proteins

Share to Mutation

Share to Polymorphism, Single Nucleotide

Share to Protein Binding

Source

Identifiers

PMID: 31995180
DOI: 10.1093/hmg/ddaa017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Negative evidence for a role of APH1B T27I variant in Alzheimer's disease.PMID 31995180Read ↗

Specific Mutations in Aph1 Cause γ-Secretase Activation.Semantic proximity Read ↗

Functional variations in gamma-secretase activity are critical determinants of the clinical, biomarker, and cognitive progression of autosomal dominant Alzheimer’s diseaseSemantic proximity Read ↗

Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across <i>PSEN1</i> , <i>PSEN2</i> and <i>APP</i> causal genesSemantic proximity Read ↗

Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes.Semantic proximity Read ↗

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

Interactome analyses of mature γ-secretase complexes reveal distinct molecular environments of presenilin (PS) paralogs and preferential binding of signal peptide peptidase to PS2.Semantic proximity Read ↗

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

Intramembrane proteolysis by gamma-secretase.Semantic proximity Read ↗

Specific domains in anterior pharynx-defective 1 determine its intramembrane interactions with nicastrin and presenilin.Semantic proximity Read ↗

Presenilin mutations and their impact on neuronal differentiation in Alzheimer’s diseaseSemantic proximity Read ↗

Divergent consequences of PSEN1 knockout and PSEN2 knockout in stem cell derived models of the brainSemantic proximity Read ↗

Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.Semantic proximity Read ↗

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