Ph.D, University of Toronto
The laboratory’s passion is membrane transport. How do integral membrane transport proteins function as micro-machines to move substances selectively across our cell’s membranes? How does disease arise when these processes go wrong? Bicarbonate Transport proteins move bicarbonate (HCO3-) across the plasma membrane of our cells. This process is essential to control cell levels of the waste product carbon dioxide (CO2) and to regulate the pH (acid level) both inside and outside our cells. Bicarbonate transport is a simple yet central part of our body's normal functioning. Disruption of bicarbonate transport underlies many diseases. Our laboratory studies the role of bicarbonate transport in causing disease. Supported by two operating grants from the Canadian Institutes of Health Research, our major projects ongoing in our laboratory include: 1. Determining the structure and transport mechanism of the chloride/bicarbonate exchanger, AE1, which is central to red blood cell and kidney function. 2. How do defects in the transport protein called SLC4A11 cause blinding corneal diseases: Fuch's endothelial dystrophy and congenital hereditary endothelial dystrophy?
A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis.
Yang E, Seo-Mayer P, Lezon-Geyda K, Badior KE, Li J, Casey JR, Reithmeier RAF, Gallagher PG.
Blood. 2018 Apr 12;131(15):1759-1763.
Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies.
Alka K, Casey JR.
Hum Mutat. 2018 May;39(5):676-690.Featured as cover for this issue of the journal.
SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations.
Badior KE, Alka K, Casey JR.
Hum Mutat. 2017 Mar;38(3):279-288.
Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies.
Loganathan SK, Schneider HP, Morgan PE, Deitmer JW, Casey JR.
Am J Physiol Cell Physiol. (2016) Nov 1;311(5):C735-C748.
The cytoplasmic domain is essential for transport function of the integral membrane transport protein SLC4A11.
Loganathan SK, Lukowski CM, Casey JR.
Am J Physiol Cell Physiol. (2016) Jan 15;310(2):C161-74.
High Throughput Assay Identifies Glafenine as a Corrector for the Folding Defect in Corneal Dystrophy-Causing Mutants of SLC4A11.
Chiu AM, Mandziuk JJ, Loganathan SK, Alka K, Casey JR.
Invest Ophthalmol Vis Sci. (2015) Dec;56(13):7739-53.