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Gene Structure & Disease Section

of the Laboratory of Cell & Molecular Biology

Karen Usdin.
The Usdin lab studies the Repeat Expansion Diseases, a group of neurological/neurodevelopmental disorders caused by instability of a disease-specific microsatellite.
About Our Research

Select Publications

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.
Hayward B, Kumari D, Santra S, van Karnebeek CDM, van Kuilenburg ABP, Usdin K.
Sci Rep (2024 Jun 14) 14:13772. Abstract/Full Text
FAN1's protection against CGG repeat expansion requires its nuclease activity and is FANCD2-independent.
Zhao X, Lu H, Usdin K.
Nucleic Acids Res (2021 Nov 18) 49:11643-11652. Abstract/Full Text
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Lab Members

Members of the Usdin Lab 2022: Bruce Hayward, Karen Usdin, Xiaonan Zhao, Daman Kumari, Diego Jimenez and Carson Miller.
Usdin Lab 2022
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Lab News
Last Reviewed March 2025