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

Measuring Diaphragm Thickness and Function Using Point-of-Care Ultrasound05:51

Measuring Diaphragm Thickness and Function Using Point-of-Care Ultrasound

8.5K
Diaphragm thickness and function can be assessed in healthy individuals and critically ill patients using point-of-care ultrasound. This technique offers an accurate, reproducible, feasible, and well-tolerated method for evaluating diaphragm structure and function.
8.5K
Oral Health Assessment by Lay Personnel for Older Adults08:47

Oral Health Assessment by Lay Personnel for Older Adults

13.7K
The goal of this protocol is to enable non-dental professionals to assess oral health status for research or health-screening purposes. Aspects assessed include lips, tongue, soft and hard tissues, natural and artificial teeth, oral cleanliness, plaque, swallowing, and impact of oral health on quality of...
13.7K
Preparation of High-Quality Fermented Fish Product05:17

Preparation of High-Quality Fermented Fish Product

11.0K
The goal of the protocol is to provide an industrialized fish fermentation technique based on inoculation of Saccharomyces...
11.0K
High-resolution Respirometry to Measure Mitochondrial Function of Intact Beta Cells in the Presence of Natural Compounds12:32

High-resolution Respirometry to Measure Mitochondrial Function of Intact Beta Cells in the Presence of Natural Compounds

13.0K
The goal of this protocol is to measure the effect of glucose-mediated changes to mitochondrial respiration in the presence of natural compounds on intact 832/13 beta cells using high-resolution respirometry.
13.0K
Measuring DNA Damage and Repair in Mouse Splenocytes After Chronic In Vivo Exposure to Very Low Doses of Beta- and Gamma-Radiation11:24

Measuring DNA Damage and Repair in Mouse Splenocytes After Chronic In Vivo Exposure to Very Low Doses of Beta- and Gamma-Radiation

11.5K
A protocol to evaluate changes in DNA damage levels and DNA repair capacity that may be induced by chronic in vivo low dose irradiation in mouse spleen lymphocytes, by measuring phosphorylated histone H2AX, a marker of DNA double-strand breaks, using flow cytometry is presented.
11.5K
Proper Care and Cleaning of the Microscope04:57

Proper Care and Cleaning of the Microscope

45.4K
Keeping the microscope optics clean is important for high-quality imaging. Dust, fingerprints, excess immersion oil, or mounting medium on or in a microscope causes reduction in contrast and resolution. DIC is especially sensitive to contamination and scratches on the lens surfaces. This protocol details the procedure for keeping the microscope...
45.4K

You might also read

Related Articles

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

Sort by
Same author

Conserved sleep disturbances in FOXP1 syndrome originate from developmental dysregulation of peptidergic signaling.

The Journal of clinical investigation·2026
Same author

Dynamical modeling of individual sensory reactivity and habituation learning.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same author

Molecular background of Philadelphia chromosome dependent enhancement of cellular growth and tyrosine kinase inhibitor sensitivity.

Experimental hematology & oncology·2026
Same author

Cross-organ communication based on non-coding RNA networks leads to cognitive dysfunction in mice.

Neurobiology of disease·2026
Same author

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Nature communications·2026
Same author

International clinical evidence-based guideline for Kleefstra syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Related Experiment Video

Updated: Feb 6, 2026

Author Spotlight: Unraveling the Impact of Mechanical Ventilation on Diaphragm Function and Patient Outcomes
05:51

Author Spotlight: Unraveling the Impact of Mechanical Ventilation on Diaphragm Function and Patient Outcomes

Published on: November 3, 2023

8.5K

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

Sahar Esmaeeli-Nieh1, Michaela Fenckova2, Iain M Porter3

  • 1Department for Human Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

Plos Genetics
|May 12, 2016
PubMed
Summary

A novel stop-mutation in the BOD1 gene causes intellectual disability by disrupting chromosome segregation and synaptic function. This study reveals BOD1

More Related Videos

High-resolution Respirometry to Measure Mitochondrial Function of Intact Beta Cells in the Presence of Natural Compounds
12:32

High-resolution Respirometry to Measure Mitochondrial Function of Intact Beta Cells in the Presence of Natural Compounds

Published on: January 23, 2018

13.0K
Measuring DNA Damage and Repair in Mouse Splenocytes After Chronic In Vivo Exposure to Very Low Doses of Beta- and Gamma-Radiation
11:24

Measuring DNA Damage and Repair in Mouse Splenocytes After Chronic In Vivo Exposure to Very Low Doses of Beta- and Gamma-Radiation

Published on: July 4, 2015

11.5K

Related Experiment Videos

Last Updated: Feb 6, 2026

Author Spotlight: Unraveling the Impact of Mechanical Ventilation on Diaphragm Function and Patient Outcomes
05:51

Author Spotlight: Unraveling the Impact of Mechanical Ventilation on Diaphragm Function and Patient Outcomes

Published on: November 3, 2023

8.5K
High-resolution Respirometry to Measure Mitochondrial Function of Intact Beta Cells in the Presence of Natural Compounds
12:32

High-resolution Respirometry to Measure Mitochondrial Function of Intact Beta Cells in the Presence of Natural Compounds

Published on: January 23, 2018

13.0K
Measuring DNA Damage and Repair in Mouse Splenocytes After Chronic In Vivo Exposure to Very Low Doses of Beta- and Gamma-Radiation
11:24

Measuring DNA Damage and Repair in Mouse Splenocytes After Chronic In Vivo Exposure to Very Low Doses of Beta- and Gamma-Radiation

Published on: July 4, 2015

11.5K

Area of Science:

  • Genetics
  • Neuroscience
  • Cell Biology

Background:

  • The BOD1 gene is crucial for proper chromosome segregation during mitosis.
  • BOD1 regulates the activity of PLK1 substrates via Protein Phosphatase 2A (PP2A).
  • Mutations in BOD1 have been linked to intellectual disability.

Purpose of the Study:

  • To investigate the role of BOD1 in a large consanguineous family with intellectual disability.
  • To elucidate the molecular mechanisms underlying BOD1 deficiency.
  • To explore potential cell cycle-independent functions of BOD1 in the nervous system.

Main Methods:

  • Genetic analysis of a family with intellectual disability.
  • Cell culture studies using patient-derived fibroblasts.
  • Analysis of protein localization and cell cycle progression.
  • Development of Drosophila models for studying neuronal function.

Main Results:

  • A homozygous stop-mutation in BOD1 was identified in affected individuals, leading to undetectable BOD1 mRNA and protein.
  • Patient-derived cells showed altered PLK1 and PP2A localization at mitotic kinetochores but progressed through mitosis at an accelerated rate.
  • BOD1 is expressed in adult brain tissues and localizes to synapses in murine neurons.
  • Neuron-specific knockdown of BOD1 in Drosophila resulted in learning deficits and synaptic abnormalities.

Conclusions:

  • BOD1 deficiency, caused by the identified mutation, is causative of intellectual disability.
  • BOD1 has essential cell cycle-independent roles in the nervous system, including synaptic function and cognitive processes.
  • These findings highlight a conserved role for BOD1 in cognitive development and maintenance across species.