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

Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.

Cell - 8 Sept 2006

Tu Huiping, Nelson Omar, Bezprozvanny Arseny, Wang Zhengnan, Lee Sheu-Fen, Hao Yi-Heng, Serneels Lutgarde, De Strooper Bart, Yu Gang, Bezprozvanny Ilya

Abstract excerpt

Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disorder. Mutations in presenilins 1 and 2 (PS1 and PS2) account for approximately 40% of familial AD (FAD) cases. FAD mutations and genetic deletions of presenilins have been associated with calcium (Ca(2+)) signaling abnormalities. We demonstrate that wild-type presenilins, but not PS1-M146V and PS2-N141I FAD mutants, can form...

Read the complete abstract on PubMed

Topics

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

Share to Calcium Channels
Share to Calcium Signaling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Embryo, Mammalian

Share to Endoplasmic Reticulum

Share to Homeostasis

Share to Lipid Bilayers

Share to Presenilin-1

Share to Presenilin-2

Source

Open in PubMed Open full text

Identifiers

PMID: 16959576
DOI: 10.1016/j.cell.2006.06.059
PMCID: PMC3241869

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.PMID 16959576Read ↗

Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.Semantic proximity Read ↗

Familial Alzheimer disease–linked mutations specifically disrupt Ca2+ leak function of presenilin 1Semantic proximity Read ↗

Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.Semantic proximity Read ↗

Presenilins as endoplasmic reticulum calcium leak channels and Alzheimer's disease pathogenesis.Semantic proximity Read ↗

Presenilins and calcium signaling-systems biology to the rescue.Semantic proximity Read ↗

SERCA pump activity is physiologically regulated by presenilin and regulates amyloid beta production.Semantic proximity Read ↗

PSEN2 (presenilin 2) mutants linked to familial Alzheimer disease impair autophagy by altering Ca2+ homeostasisSemantic proximity Read ↗

Presenilin 1 Regulates Membrane Homeostatic Pathways that are Dysregulated in Alzheimer’s DiseaseSemantic proximity Read ↗

ER calcium and Alzheimer's disease: in a state of flux.Semantic proximity Read ↗

Carvedilol suppresses ryanodine receptor-dependent Ca <sup>2+</sup> bursts in human neurons bearing <i>PSEN1</i> variants found in early onset Alzheimer’s diseaseSemantic proximity Read ↗

Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk.Semantic proximity Read ↗

Presenilin-2 dampens intracellular Ca2+ stores by increasing Ca2+ leakage and reducing Ca2+ uptake.Semantic proximity Read ↗

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