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

Ion channel diseases.

Christian A Hübner1, Thomas J Jentsch

  • 1Zentrum für Molekulare Neurobiologie Hamburg, Universität Hamburg, Falkenried 94, D-20246 Hamburg, Germany.

Human Molecular Genetics
|September 28, 2002
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

Intracellular lipopolysaccharide binds RETREG1/FAM134B to regulate ER remodeling upon bacterial infection.

Autophagy·2026
Same author

LRRC8-Mediated Glutamate Release from Astrocytes Is Not Increased During the Initiation of Experimental Temporal Lobe Epilepsy.

International journal of molecular sciences·2026
Same author

Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunction.

Science translational medicine·2026
Same author

A protective cGAMP-mediated anti-tumor immune response can proceed without LRRC8/VRAC channels.

The Journal of biological chemistry·2025
Same author

REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2025
Same author

Andreas Gal the Mentor.

Ophthalmic genetics·2025
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
Same journal

Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6.

Human molecular genetics·2026
Same journal

Retraction: Aqua-soluble DDQ reduces the levels of Dr1 and Ab and inhibits abnormal interactions between Ab and Dr1 and protects Alzheimer's disease neurons from Ab- and Dr1-induced mitochondrial and synaptic toxicities.

Human molecular genetics·2026
Same journal

Retraction: Breast cancer cell-derived exosome-delivered microRNA-155 targets UBQLN1 in adipocytes and facilitates cancer cachexia-related fat loss.

Human molecular genetics·2026
Same journal

Editor's Note: Protective effects of antidepressant citalopram against abnormal APP processing and amyloid beta-induced mitochondrial dynamics, biogenesis, mitophagy and synaptic toxicities in Alzheimer's disease.

Human molecular genetics·2026
See all related articles

Ion channel dysfunction causes various diseases. This review highlights recent findings in channelopathies, offering new physiological insights into these critical cellular components.

Area of Science:

  • Molecular Biology
  • Physiology
  • Genetics

Background:

  • Ion channels are crucial for diverse cellular functions beyond electrical signaling, including chemical signaling, transport, and volume regulation.
  • Dysfunction of these channels leads to a wide range of human diseases, collectively known as channelopathies.
  • The understanding of channelopathies and their associated genetic defects has expanded significantly.

Purpose of the Study:

  • To provide a concise overview of identified channelopathies.
  • To emphasize recent discoveries in the field of ion channel research.
  • To highlight channelopathies that have substantially improved our understanding of physiological processes.

Main Methods:

  • Literature review of recent findings on ion channel function and dysfunction.

Related Experiment Videos

  • Analysis of genetic defects associated with human diseases.
  • Synthesis of current knowledge on channelopathies and their physiological implications.

    • Main Results:

    • Ion channel defects are implicated in numerous human diseases affecting various tissues.
    • Recent research has uncovered novel roles for ion channels and new associated pathologies.
    • Specific channelopathies have provided significant advancements in understanding fundamental physiological mechanisms.

    Conclusions:

    • Ion channels are vital for maintaining cellular homeostasis and function.
    • Channelopathies represent a growing class of diseases with diverse clinical manifestations.
    • Continued research into ion channels and channelopathies promises further physiological insights and therapeutic opportunities.