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

You might also read

Related Articles

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

Sort by
Same author

Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies.

eLife·2026
Same author

Outcomes following repair of truncus arteriosus type A3.

JTCVS open·2026
Same author

To BPE or not to BPE: neutron tenth-value layers in polyethylene with variable boron content for LINAC shielding.

Journal of radiological protection : official journal of the Society for Radiological Protection·2026
Same author

Incidence of High Severity Anesthesia Related Adverse Events With Increasing PREDIC<sup>3</sup>T Risk Category in Congenital Cardiac Catheterization: A Review of the C3PO Database.

Paediatric anaesthesia·2026
Same author

Mapping the global origins of soybean: a study using ICP-MS and chemometrics.

NPJ science of food·2025
Same author

Patient-Specific Midbrain Organoids with CRISPR Correction Reveal Disease Mechanisms and Enable Therapeutic Evaluation in Neuronopathic Gaucher Disease.

bioRxiv : the preprint server for biology·2025
Same journal

Circulating MYOM3 fragments reflect disease severity and therapeutic efficacy in tubular aggregate myopathy and Stormorken syndrome.

Human molecular genetics·2026
Same journal

The FVB-nmd SMARD1 mouse presents with early respiratory deficits and pathology that significantly impact lifespan.

Human molecular genetics·2026
Same journal

Utrophin requires α-Syntrophin to maintain neuromuscular junction integrity in mdx mice.

Human molecular genetics·2026
Same journal

A novel gene ACTRT3 mutations induce sperm malformations and fertilization failure via Acrosomal ultrastructural defects.

Human molecular genetics·2026
Same journal

Nucleic acid-based therapeutic strategies for modulator-refractory cystic fibrosis-causing variants.

Human molecular genetics·2026
Same journal

Evidence that disruption of Discoidin domain receptor 2 contributes to palate malformations through effects on the extracellular matrix.

Human molecular genetics·2026
See all related articles

Related Experiment Video

Updated: May 2, 2026

Bioluminescence Imaging of Neuroinflammation in Transgenic Mice After Peripheral Inoculation of Alpha-Synuclein Fibrils
09:32

Bioluminescence Imaging of Neuroinflammation in Transgenic Mice After Peripheral Inoculation of Alpha-Synuclein Fibrils

Published on: April 13, 2017

8.2K

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.

You-hai Xu1, Kui Xu2, Ying Sun1

  • 1The Division of Human Genetics and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.

Human Molecular Genetics
|March 7, 2014
PubMed
Summary
This summary is machine-generated.

Gaucher disease impairs acid β-glucosidase (GCase), leading to toxic buildup and protein aggregation in the brain. This study reveals GCase deficiency causes mitochondrial dysfunction and multiple proteinopathies, linking Gaucher disease to neurodegeneration.

More Related Videos

Investigating the Spreading and Toxicity of Prion-like Proteins Using the Metazoan Model Organism C. elegans
12:57

Investigating the Spreading and Toxicity of Prion-like Proteins Using the Metazoan Model Organism C. elegans

Published on: January 8, 2015

15.7K
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

6.4K

Related Experiment Videos

Last Updated: May 2, 2026

Bioluminescence Imaging of Neuroinflammation in Transgenic Mice After Peripheral Inoculation of Alpha-Synuclein Fibrils
09:32

Bioluminescence Imaging of Neuroinflammation in Transgenic Mice After Peripheral Inoculation of Alpha-Synuclein Fibrils

Published on: April 13, 2017

8.2K
Investigating the Spreading and Toxicity of Prion-like Proteins Using the Metazoan Model Organism C. elegans
12:57

Investigating the Spreading and Toxicity of Prion-like Proteins Using the Metazoan Model Organism C. elegans

Published on: January 8, 2015

15.7K
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

6.4K

Area of Science:

  • Neuroscience
  • Lysosomal Storage Diseases
  • Mitochondrial Biology

Background:

  • Gaucher disease (GD) involves acid β-glucosidase (GCase) deficiency, causing glucosylceramide (GC)/glucosylsphingosine (GS) accumulation.
  • A link between GD and neurodegenerative diseases is suggested by α-synuclein aggregation in GD brains.
  • Amyloid precursor protein (APP) and β-amyloid (Aβ) pathology may contribute to neurodegeneration in GD.

Purpose of the Study:

  • Investigate the role of GCase deficiency in protein aggregation and mitochondrial dysfunction in neuronopathic Gaucher disease (nGD).
  • Identify specific protein aggregates and their cellular localization in nGD mouse models.
  • Determine the impact of GCase deficiency on mitochondrial function and energy production.

Main Methods:

  • Immunohistochemistry and biochemical analyses of nGD mouse brains.
  • Co-localization studies with neuronal, mitochondrial, autophagy, and lysosomal markers.
  • In vitro studies using conduritol B epoxide (CBE) to inhibit GCase in neural cells.
  • Ultrastructural analysis of mitochondria and assessment of mitochondrial respiration and ATP production.

Main Results:

  • nGD mice exhibited significant β-amyloid and APP aggregates in brain regions like the cortex and substantia nigra.
  • APP aggregates co-localized with α-synuclein, mitochondria, and to a lesser extent, autophagy and lysosomal markers.
  • Inhibition of GCase with CBE in vitro recapitulated APP/α-synuclein aggregation and GC/GS accumulation.
  • nGD brains and CBE-treated cells showed impaired mitochondrial function, including reduced ATP production and oxygen consumption.

Conclusions:

  • Defective GCase function and GC/GS accumulation are implicated in mitochondrial dysfunction in nGD.
  • These factors contribute to multi-proteinopathies involving α-synuclein, APP, and Aβ aggregates in nGD.
  • The findings highlight a potential mechanism linking Gaucher disease to neurodegenerative processes.