Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Presenilins: structural aspects and posttranslational events.

F Checler1

  • 1Institut de Pharmacologie Moléculaire et Cellulaire, UPR 411 du CNRS, Sophia Antipolis, Valbonne, France.

Molecular Neurobiology
|September 24, 1999
PubMed
Summary

Early-onset Alzheimer's disease (AD) is linked to mutations in presenilins (PS1 and PS2). These mutations increase amyloid-beta (Abeta42) production, contributing to plaque formation and neurodegeneration.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Does Intraneuronal Accumulation of Carboxyl-terminal Fragments of the Amyloid Precursor Protein Trigger Early Neurotoxicity in Alzheimer's Disease?

Current Alzheimer research·2019
Same author

The transcription factor XBP1s restores hippocampal synaptic plasticity and memory by control of the Kalirin-7 pathway in Alzheimer model.

Molecular psychiatry·2016
Same author

Influence of Genetic Background on Apathy-Like Behavior in Triple Transgenic AD Mice.

Current Alzheimer research·2016
Same author

Sox2 functionally interacts with βAPP, the βAPP intracellular domain and ADAM10 at a transcriptional level in human cells.

Neuroscience·2015
Same author

Interplay between parkin and p53 governs a physiological homeostasis that is disrupted in Parkinson's disease and cerebral cancer.

Neuro-degenerative diseases·2013
Same author

Cerebrospinal Aβ11-x and 17-x levels as indicators of mild cognitive impairment and patients' stratification in Alzheimer's disease.

Translational psychiatry·2013

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Early-onset Alzheimer's disease (AD) is primarily caused by inherited mutations.
  • These mutations are located on chromosomes 14 and 1, affecting presenilin 1 (PS1) and presenilin 2 (PS2) genes.

Purpose of the Study:

  • To review the structural aspects of presenilins (PS).
  • To explore posttranscriptional modifications of PS.
  • To discuss current hypotheses on PS normal functions and FAD-linked mutations.

Main Methods:

  • Literature review focusing on structural biology and molecular genetics.
  • Analysis of studies investigating presenilin function and mutations.
  • Synthesis of current hypotheses regarding Alzheimer's disease pathogenesis.

Main Results:

  • Mutated presenilins (PS1, PS2) lead to increased production of amyloid-beta peptide (Abeta), particularly Abeta42.
  • Overproduction of Abeta42 is implicated in the formation of senile plaques in AD brains.
  • Presenilin mutations are a key factor in the neurodegenerative process of early-onset AD.

Conclusions:

  • Understanding presenilin structure and function is crucial for elucidating Alzheimer's disease mechanisms.
  • Posttranscriptional events and FAD-linked mutations significantly influence PS function and AD pathology.
  • Further research into presenilins may offer therapeutic targets for Alzheimer's disease.

Related Experiment Videos