Leonard Kaczmarek, PhD
Professor of Pharmacology and of Cellular And Molecular PhysiologyCards
About
Research
Overview
Our laboratory has investigates the role of potassium channels, as well as other classes of ion channels, in the short-term and long-term regulation of neuronal excitability. Our group was the first to demonstrate directly, using purified enzymes, that excitability of neurons is regulated by cyclic AMP-dependent protein kinase, protein kinase C and tyrosine phosphatases. As part of this work we isolated the genes for over fourteen novel ion channels and were the first to identify the “two-pore” family of potassium channels. Among the channels that our group cloned and characterized are Kv3.1b channel, which is required for high-frequency firing in many neurons and the Slack and Slick genes that underlie Na+-activated K+ channels. Our work was the first to show directly that rapid changes in the phosphorylation state of ion channels and in the synthesis of new channels occur in vivo in response to changes in an animal’s environment. Most recently, we have found that the Slack protein interacts with the Fragile X Mental Retardation Protein FMRP and that human mutations in Slack produce very severe epilepsy and developmental delay. This is now a major focus of our laboratory.
Medical Subject Headings (MeSH)
News
News
- April 04, 2019Source: Medicine@Yale
Endowment to Support Student Research at Woods Hole
- April 02, 2019
Endowment to support student research
- March 17, 2016
Research in the news: Scientists uncover new pathway for research in brain diseases
- October 23, 2012
Yale researchers identify genetic cause of rare infant epileptic disorder