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 Experiment Videos

Peroxisomal disorders.

H W Moser1, A Bergin, D Cornblath

  • 1Center for Research on Mental Retardation and Related Aspects of Human Development, Kennedy Institute, Baltimore, MD.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire
|July 1, 1991
PubMed
Summary
This summary is machine-generated.

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

Effect-directed analysis of ginger (Zingiber officinale) and its food products, and quantification of bioactive compounds via high-performance thin-layer chromatography and mass spectrometry.

Food chemistry·2017
Same author

Rasmussen's encephalitis presenting as focal cortical dysplasia.

Epilepsy & behavior case reports·2015
Same author

Higher evening antiepileptic drug dose for nocturnal and early-morning seizures.

Epilepsy & behavior : E&B·2011
Same author

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Journal of inherited metabolic disease·2009
Same author

Patterns of Guillain-Barre syndrome in children: results from a Mexican population.

Neurology·2007
Same author

European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of paraproteinaemic demyelinating neuropathies: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society.

European journal of neurology·2006
Same journal

Reply to the discussion of "Efficacy of lactoferrin supplementation in pediatric infections: a systematic review and metanalysis".

Biochemistry and cell biology = Biochimie et biologie cellulaire·2026
Same journal

Discussion of "Efficacy of lactoferrin supplementation in pediatric infections: a systematic review and meta-analysis".

Biochemistry and cell biology = Biochimie et biologie cellulaire·2026
Same journal

Does the beta subunit of mitochondrial trifunctional protein modulate monolysocardiolipin acylation to cardiolipin?

Biochemistry and cell biology = Biochimie et biologie cellulaire·2026
Same journal

Distinct effects of disease-associated mutations in the proximal C-linker on negatively cooperative binding of cyclic nucleotides to the human HCN4 channel.

Biochemistry and cell biology = Biochimie et biologie cellulaire·2026
Same journal

PPP2R2B targets the JAK2-STAT3 signaling pathway to regulate ferroptosis in breast cancer cells.

Biochemistry and cell biology = Biochimie et biologie cellulaire·2026
Same journal

Suppression of CBP/p300 induces growth inhibition and autophagy of hepatocellular carcinoma cells through regulation of EPHA2 by its super-enhancer acetylation.

Biochemistry and cell biology = Biochimie et biologie cellulaire·2026
See all related articles

Human disease linked to abnormal peroxisome function is a recent discovery. These peroxisomal disorders, like Zellweger syndrome, impact multiple organs and involve fatty acid and ether lipid metabolism disturbances.

Area of Science:

  • Biochemistry
  • Cell Biology
  • Human Genetics

Background:

  • Peroxisomes, discovered in 1983, were once thought vestigial but are now known to be vital.
  • Key functions include fatty acid beta-oxidation, as observed by Paul Lazarow.
  • Over 40 enzymes are localized to peroxisomes, highlighting their complex roles.

Purpose of the Study:

  • To provide an overview of human peroxisomal disorders.
  • To emphasize the role of peroxisomal malfunction in disease states.
  • To focus on disturbances in fatty acid and ether lipid metabolism.

Main Methods:

  • Review of recent scientific literature and diagnostic techniques.
  • Clinical case identification and analysis.
  • Biochemical analysis of metabolic disturbances.

Related Experiment Videos

Main Results:

  • Eleven distinct peroxisomal disorders have been identified.
  • Zellweger syndrome is the most severe, often fatal within months.
  • Over 2000 patients with peroxisomal disorders identified by the authors' laboratory.
  • Disturbances in very long chain fatty acid and ether phospholipid metabolism are common, present in 9 of 11 disorders.

Conclusions:

  • Peroxisomal disorders represent a significant group of human diseases.
  • Early diagnosis and understanding of metabolic pathways are crucial.
  • Further research into peroxisomal function and dysfunction is warranted.