
معرفی
Anthony Antonellis is a Professor of Human Genetics at the University of Michigan Medical School. His research focuses on transcriptional regulation and the genetic and molecular mechanisms of Mendelian disease, particularly mutations in aminoacyl-tRNA synthetases linked to neuropathies and neurodevelopmental defects. He is affiliated with the Antonellis Laboratory and the Cell and Molecular Biology (CMB) program.
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Research areas include studies of gene regulation via cis-acting elements in myelinating cells, and the role of tRNA charging enzymes in neurodegenerative and developmental disorders. His group employs model organisms like yeast and zebrafish to explore clinical heterogeneity and disease mechanisms. Articles highlight Mendelian disorders, neuropathy genetics, tRNA synthetase dysfunction, and neurogenetics, with emphasis on translation to clinical diagnostics and therapeutics.
Contact: antonell@umich.edu
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