Proceedings of the National Academy of Sciences of the United States of America

About the PNAS Member Editor
Name Ackerman, Susan L.
Location University of California, San Diego
Primary Field Cellular and Molecular Neuroscience
Secondary Field Genetics
 Election Citation
The Ackerman lab uses genetic screens, genomics, cell biology, and biochemistry to identify mutations and molecular pathways in the mammalian brain.
 Research Interests
The Ackerman laboratory focuses on the mechanisms involved in the maintenance of neuronal homeostasis and age-related death of neurons in the mammalian central nervous system. The lab's studies have combined mouse genetic screens, genomics, cell biology, and biochemistry to identify novel molecular pathways underlying neurodegeneration. Using these tools, the lab has found that disruption of endoplasmic reticulum homeostasis, abnormal lipid biogenesis, and the loss of fidelity of mRNA translation lead to protein misfolding, a hallmark of neurodegeneration in the aging brain. In addition, their studies have shown that both distortion of pre-mRNA splicing via disruption of spliceosomal RNA and failure to resolve stalled translation elongation complexes leads to neurodegeneration. The Ackerman lab also makes use of natural variation present in different inbred mouse strains to identify genes that modify neurodegenerative phenotypes. This unbiased approach has led to the identification of a tRNA specifically expressed in the nervous system, and provided evidence for phenotypic consequences of mutations in cytoplasmic, multi-copy tRNAs in higher eukaryotes. Using a similar genetic approach, the Ackerman lab has also defined a new mechanism of tRNA synthetase proofreading.

 
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