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

Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

3.4K
Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
3.4K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Peroxisomes01:24

Peroxisomes

11.2K
Peroxisomes are specialized organelles present in fungi, plant, and animal cells. It can vary in number, size, morphology, and activity depending on the type of tissue and the nutritional state of the cell. For example, cells with active lipid metabolism, such as adipocytes, neurons, and hepatocytes, have more peroxisomes than other cells in the body. Besides their primary role in breaking down complex organic molecules, peroxisomes can also synthesize specific macromolecules and participate in...
11.2K
Pleiotropy01:33

Pleiotropy

40.3K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.3K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

145
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
145
Oxidation of Alkenes: Anti Dihydroxylation with Peroxy Acids02:04

Oxidation of Alkenes: Anti Dihydroxylation with Peroxy Acids

5.7K
Diols are compounds with two hydroxyl groups. In addition to syn dihydroxylation, diols can also be synthesized through the process of anti dihydroxylation. The process involves treating an alkene with a peroxycarboxylic acid to form an epoxide. Epoxides are highly strained three-membered rings with oxygen and two carbons occupying the corners of an equilateral triangle. This step is followed by ring-opening of the epoxide in the presence of an aqueous acid to give a trans diol.
5.7K

You might also read

Related Articles

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

Sort by
Same author

C26:0-lysophosphatidylcholine in X-linked adrenoleukodystrophy.

Pharmacology & therapeutics·2026
Same author

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD-Related Myelopathy.

Annals of clinical and translational neurology·2026
Same author

The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.

Journal of inherited metabolic disease·2026
Same author

Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research.

Neurology·2026
Same author

Neurocognitive Outcome After Pediatric Traumatic Brain Injury: Patient Subgroups With Diverging Outcome.

Pediatric neurology·2026
Same author

Evolution of the lipidome uncovers early changes in adrenoleukodystrophy human cortical and spinal organoids.

iScience·2026
Same journal

Preface.

Handbook of clinical neurology·2026
Same journal

Foreword.

Handbook of clinical neurology·2026
Same journal

Fundus autofluorescence imaging.

Handbook of clinical neurology·2026
Same journal

The electroretinogram as a means to study the physiology of the retina.

Handbook of clinical neurology·2026
Same journal

Adaptive optics scanning light ophthalmoscopy.

Handbook of clinical neurology·2026
Same journal

Modeling the human retina in a dish: Advances and future directions.

Handbook of clinical neurology·2026
See all related articles

Related Experiment Video

Updated: Jun 12, 2025

Monitoring Stub1-Mediated Pexophagy
08:26

Monitoring Stub1-Mediated Pexophagy

Published on: May 12, 2023

1.5K

Peroxisomal leukodystrophy.

Marc Engelen1

  • 1Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.

Handbook of Clinical Neurology
|September 25, 2024
PubMed
Summary
This summary is machine-generated.

Peroxisomal disorders, including those causing leukodystrophy, stem from single-enzyme or biogenesis defects, often resulting in multisystemic conditions. This review details X-linked adrenoleukodystrophy and Zellweger spectrum disorders.

Keywords:
LeukodystrophyPeroxisomal diseasePeroxisomes

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

7.9K
Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
08:09

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease

Published on: January 7, 2014

7.5K

Related Experiment Videos

Last Updated: Jun 12, 2025

Monitoring Stub1-Mediated Pexophagy
08:26

Monitoring Stub1-Mediated Pexophagy

Published on: May 12, 2023

1.5K
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

7.9K
Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
08:09

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease

Published on: January 7, 2014

7.5K

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Peroxisomal disorders are genetic conditions affecting peroxisome function.
  • They are categorized into single-enzyme deficiencies or peroxisomal biogenesis disorders (PBDs).
  • Many peroxisomal disorders manifest as complex multisystemic diseases.

Purpose of the Study:

  • To provide an overview of peroxisomal disorders.
  • To specifically discuss peroxisomal disorders associated with leukodystrophy.
  • To highlight key examples including X-linked adrenoleukodystrophy and Zellweger spectrum disorders.

Main Methods:

  • Literature review of peroxisomal disorders.
  • Classification of peroxisomal disorders based on affected pathways.
  • Focus on disorders presenting with leukodystrophy.

Main Results:

  • Peroxisomal disorders result from impaired peroxisomal function, leading to various clinical phenotypes.
  • Leukodystrophy is a common feature in several peroxisomal disorders.
  • Specific examples discussed include X-linked adrenoleukodystrophy, Zellweger spectrum disorders, D-bifunctional protein deficiency, Acyl-CoA oxidase 1 deficiency, and AMACR deficiency.

Conclusions:

  • Peroxisomal disorders represent a spectrum of genetic diseases with significant clinical impact.
  • Understanding the classification and specific manifestations, particularly leukodystrophy, is crucial for diagnosis and management.
  • Further research into these complex disorders is warranted.