We have located links that may give you full text access.
Journal Article
Research Support, Non-U.S. Gov't
Loss-of-function of IKAP/ELP1: could neuronal migration defect underlie familial dysautonomia?
Cell Adhesion & Migration 2008 October
Familial dysautonomia (FD) is a hereditary neuronal disease characterized by poor development and progressive degeneration of the sensory and autonomic nervous system. Majority of FD (99.5%) results from a single nucleotide point mutation in the IKBKAP gene encoding IKAP, also known as elongation protein 1 (ELP1). The point mutation leads to variable, tissue specific expression of a truncated IKBKAP mRNA. The appearance of the truncated IKBKAP coincides with a marked reduction of its wild type mRNA leading to decreased IKAP protein levels especially in the sensory and autonomous nervous system. Recently, two independent studies were carried out to establish a cellular model system to study the loss-of-function of IKAP in mammalian cells. Both studies used RNA interference to deplete wild type IKAP from different mammalian cell types. In both studies the depletion of IKAP resulted in a cell migration defect, revealing the importance of IKAP in this process. These studies lead to a common conclusion according to which defective neuronal migration could underlie FD. They gave however two very different explanations of how IKAP would regulate cell migration: via transcriptional regulation and via cytosolic interactions.
Full text links
Related Resources
Trending Papers
Challenges in Septic Shock: From New Hemodynamics to Blood Purification Therapies.Journal of Personalized Medicine 2024 Februrary 4
Molecular Targets of Novel Therapeutics for Diabetic Kidney Disease: A New Era of Nephroprotection.International Journal of Molecular Sciences 2024 April 4
The 'Ten Commandments' for the 2023 European Society of Cardiology guidelines for the management of endocarditis.European Heart Journal 2024 April 18
A Guide to the Use of Vasopressors and Inotropes for Patients in Shock.Journal of Intensive Care Medicine 2024 April 14
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app