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

iPS Cell Differentiation01:22

iPS Cell Differentiation

2.8K
The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
2.8K

You might also read

Related Articles

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

Sort by
Same author

Hypoxia-activated PROTAC for dual inhibition of FAK and EGFR enables synergistic mechano-chemical cancer therapy.

Neoplasia (New York, N.Y.)Ā·2026
Same author

Targeting KIF18B overcomes oxaliplatin resistance in esophageal squamous cell carcinoma via suppression of the ATR/CHK1 axis.

Molecular genetics and genomics : MGGĀ·2026
Same author

Determination of standardized mineral availability in different corn sources for broilers and establishment of prediction models.

Animal nutrition (Zhongguo xu mu shou yi xue hui)Ā·2026
Same author

The poly-(HA-GMA) hydrogel carrying AAV8-sTĪ²RII alleviates scar formation in mice skin wound healing by inhibiting fibrosis.

Gene therapyĀ·2026
Same author

The role and underlying mechanisms of Qi Gong Wan in enhancing the endometrial receptivity of a rat model with polycystic ovary syndrome.

Frontiers in reproductive healthĀ·2026
Same author

The role of the y(+)L-type amino acid transporter 2 in promoting zinc absorption as zinc proteinate with moderate chelation strength in broiler primary duodenal epithelial cells.

Journal of animal scienceĀ·2026

Related Experiment Video

Updated: Aug 2, 2025

Generation of iPSC-derived Human Brain Organoids to Model Early Neurodevelopmental Disorders
07:40

Generation of iPSC-derived Human Brain Organoids to Model Early Neurodevelopmental Disorders

Published on: April 14, 2017

20.7K

Identifying altered developmental pathways in human globoid cell leukodystrophy iPSCs-derived NSCs using

Yafeng Lv1, Yu Qin2, Jing Wang1

  • 1Hubei Key Laboratory of Tumor Microenvironment and Immunotherapy, College of Basic Medical Sciences, China Three Gorges University, Yichang, 443000, Hubei, China.

BMC Genomics
|April 19, 2023
PubMed
Summary

Globoid cell leukodystrophy (GLD) is a neurodegenerative disease. This study used patient-derived stem cells to reveal molecular changes and signaling pathways involved in GLD pathogenesis.

Keywords:
GalactocerebrosidaseGloboid cell leukodystrophyInduced pluripotent stem cellNeural stem cellNeurodegenerative

More Related Videos

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

8.0K
In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
06:38

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

Published on: March 7, 2025

548

Related Experiment Videos

Last Updated: Aug 2, 2025

Generation of iPSC-derived Human Brain Organoids to Model Early Neurodevelopmental Disorders
07:40

Generation of iPSC-derived Human Brain Organoids to Model Early Neurodevelopmental Disorders

Published on: April 14, 2017

20.7K
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

8.0K
In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
06:38

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

Published on: March 7, 2025

548

Area of Science:

  • Neuroscience
  • Genetics
  • Stem Cell Biology

Background:

  • Globoid cell leukodystrophy (GLD) is a severe neurodegenerative disorder characterized by demyelination due to galactocerebrosidase defects.
  • Molecular mechanisms of GLD in human neural cells remain poorly understood.
  • Patient-derived induced pluripotent stem cells (iPSCs) offer a valuable model for studying GLD.

Purpose of the Study:

  • Investigate gene-expression changes in GLD patient-derived iPSCs and neural stem cells (NSCs).
  • Identify molecular pathways contributing to GLD pathogenesis.
  • Validate the utility of iPSC-based models for GLD research.

Main Methods:

  • Comparison of gene expression profiles between GLD patient (K-iPSCs/NSCs) and control (AF-iPSCs/NSCs) using RNA-sequencing.
  • Identification of significantly dysregulated messenger RNAs (mRNAs).
  • Validation of differentially expressed genes using real-time quantitative polymerase chain reaction (RT-qPCR).

Main Results:

  • Identified 194 dysregulated mRNAs in K-iPSCs vs. AF-iPSCs and 702 in K-NSCs vs. AF-NSCs.
  • Enriched Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathways related to GLD.
  • Validated 25 differentially expressed genes and identified pathways in neuroactive ligand-receptor interactions, synaptic signaling, and cell signaling.

Conclusions:

  • Mutations in the galactosylceramidase gene disrupt identified signaling pathways during neural development, contributing to GLD.
  • The iPSC-based model (K-iPSCs) serves as a novel tool for studying the molecular basis of GLD.