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Molecular Basis of Genetic Diseases

Publications

 

  • Derek P. Claxton, Emily M. Overway, James K. Oeser, Richard M. O’Brien, Hassane S. Mchaourab. Biophysical and functional properties of purified glucose-6-phosphatase catalytic subunit 1. J Biol Chem. 2021 Dec 21:101520. doi: 10.1016/j.jbc.2021.101520. Online ahead of print. https://www.jbc.org/article/S0021-9258(21)01330-2/fulltext

 

  • Emily M. Overway, Karin J Bosma, Derek P. Claxton, James K. Oeser, Kritika Singh, Lindsay B Breidenbach, Hassane S. Mchaourab, Lea K Davis, Richard M. O’Brien, Non-synonymous single nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity and fasting blood glucose. J Biol Chem. 2021 Dec 23:101534. doi: 10.1016/j.jbc.2021.101534. Online ahead of print. https://www.sciencedirect.com/science/article/pii/S0021925821013442

 

  • Campbell NG, Shekar A, Aguilar JI, Peng D, Navratna V, Yang D, Morley AN, Duran AM, Galli G, O’Grady B, Ramachandran R, Sutcliffe JS, Sitte HH, Erreger K, Meiler J, Stockner T, Bellan LM, Matthies HJG, Gouaux E, Mchaourab HS, Galli A. Structural, functional, and behavioral insights of dopamine dysfunction revealed by a deletion in SLC6A3. PNAS. 2019 Feb 12; 116 (9). 3853-3862.  https://www.pnas.org/content/116/9/3853.long