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 Concept Videos

Infection01:20

Infection

11.6K
When a pathogen enters the body and reproduces, it can cause an infection, damage body cells, and cause illness symptoms that eventually lead to disease. Therefore, its prevention requires breaking the chain of infection.
The chain begins with pathogens: bacteria, viruses, fungi, prions, or parasites such as protozoa helminths. These can be present on the skin as transient or resident flora, or they can be acquired from the environment. Identifying and treating the type of infection and...
11.6K
Urinary Tract Infection II: Pathophysiology01:25

Urinary Tract Infection II: Pathophysiology

521
The pathophysiology of urinary tract infections (UTIs) encompasses several progressive stages, beginning with bacterial colonization and culminating in potential systemic complications if untreated. UTIs are primarily initiated by bacteria, such as Escherichia coli, which often originate from the gastrointestinal tract and migrate to the urinary system through the periurethral area. This migration can occur via several routes, including improper hygiene practices, sexual activity, or...
521
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

674
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
674
Pneumonia II: Pathophysiology01:29

Pneumonia II: Pathophysiology

2.5K
The pathophysiology of pneumonia involves the following steps:
2.5K
Stages of Infection01:26

Stages of Infection

64.7K
Stages of infection describe what happens to a susceptible host once a pathogen invades the human body. The stages of infection are incubation, prodromal, illness, stage of decline, and convalescence. The incubation stage is the period from exposure to a pathogen until symptoms start. The infected person is unaware of impending illness as the pathogens grow and multiply within the body. The duration may vary depending on the type of infection. The incubation period of measles averages ten to...
64.7K
Defense Against Bacterial Pathogens01:31

Defense Against Bacterial Pathogens

2.6K
The human immune system is a complex network of cells, tissues, and organs that work together to defend the body against bacterial infections. It consists of various immune cells, each playing a specific role in the defense mechanism.
Phagocytes
Phagocytes are the frontline soldiers of the immune system. They include neutrophils and macrophages. Neutrophils are the most abundant type of white blood cell and are quickly mobilized to the site of infection. Macrophages are larger cells that patrol...
2.6K

You might also read

Related Articles

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

Sort by
Same author

Combination therapy of levodopa with safinamide is more effective than with rasagiline and zonisamide in Asian Parkinson's disease patients with motor fluctuations: a systematic review and network meta-analysis of randomized controlled trials.

Journal of neurology·2026
Same author

Blood and brain tissue RNA transcriptomics reveal six potential targets of Parkinson's disease: a meta-analysis.

Journal of advanced research·2026
Same author

Three Years of a New Multidisciplinary Adult Neurogenetics Clinic in Singapore.

Neurology. Genetics·2026
Same author

Reader Response: Association of Relative Brain Hyperperfusion Independent of Dopamine Depletion With Motor Dysfunction in Patients With Parkinson Disease.

Neurology·2026
Same author

Examination of shared gut microbiome signatures in aging and Parkinson's disease.

Frontiers in aging neuroscience·2026
Same author

CSF1R T567M mutation induces microglial dysfunction and synaptic impairment in patient iPSC-derived cerebral organoids of CSF1R-related disorder.

Cell death discovery·2026

Related Experiment Video

Updated: Jan 7, 2026

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses
09:07

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses

Published on: June 14, 2020

11.5K

Basic Science and Pathogenesis.

Jolene Wei Ling Lee1, Adeline Su Lyn Ng2, Eng-King Tan1,2

  • 1Duke-NUS Medical School, Singapore, Singapore.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 24, 2025
PubMed
Summary
This summary is machine-generated.

This study models CADASIL using patient-derived cells, revealing NOTCH3 mutations impair blood-brain barrier function. Understanding these vascular effects is key to CADASIL pathophysiology.

More Related Videos

A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia
13:45

A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia

Published on: September 21, 2019

6.0K
Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses
08:38

Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses

Published on: February 22, 2019

6.3K

Related Experiment Videos

Last Updated: Jan 7, 2026

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses
09:07

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses

Published on: June 14, 2020

11.5K
A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia
13:45

A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia

Published on: September 21, 2019

6.0K
Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses
08:38

Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses

Published on: February 22, 2019

6.3K

Area of Science:

  • Neuroscience
  • Genetics
  • Stem Cell Biology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic dementia linked to NOTCH3 gene mutations.
  • The NOTCH3 mutant (MT) variant is prevalent in Asia, but its pathogenicity requires functional validation.
  • Blood-Brain-Barrier (BBB) dysfunction is implicated in CADASIL's synaptic dysfunction.

Purpose of the Study:

  • To model NOTCH3 MT pathogenesis using patient-derived induced pluripotent stem cells (iPSCs).
  • To investigate the impact of NOTCH3 MT on vascular function within BBB cell types.
  • To establish a 3D in vitro BBB model for studying CADASIL.

Main Methods:

  • Reprogramming patient PBMCs into iPSCs and correcting MT via CRISPR-Cas9 for isogenic controls.
  • Differentiating iPSCs into endothelial cells (ECs), pericytes (PCs), and astrocytes (ACs).
  • Conducting functional assays (angiogenesis, migration, TEER) and creating 3D BBB-like microtissues.

Main Results:

  • NOTCH3 expression varied across MT cell types (ECs, ACs, PCs).
  • MT ECs and PCs showed opposing occludin trends, indicating compensatory mechanisms.
  • MT ECs exhibited reduced angiogenesis, migration, and barrier tightness; 3D microtissues formed perfusable vessels.

Conclusions:

  • NOTCH3 MT has multifaceted effects on multiple cell types, necessitating heterogeneous models.
  • Investigating vascular deregulation in CADASIL is crucial for understanding disease mechanisms.
  • The developed 3D BBB model shows promise for studying vascular function in CADASIL.