What is it about?
Peripheral nerve disease CMT1A is caused by a loss of the fatty layer (myelin) around the axons of the peripheral nervous system. CMT1A is a genetic disease caused by the duplication of the PMP22 gene. This paper describes how this genetic defect is causing problems in lipid synthesis by the cells that make the myelin.
Featured Image
Why is it important?
This paper furthers the knowledge of the disease mechanism in CMT1A.
Read the Original
This page is a summary of: PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells, Brain, May 2024, Oxford University Press (OUP),
DOI: 10.1093/brain/awae158.
You can read the full text:
Contributors
The following have contributed to this page
