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Degradation mechanism of a Golgi-retained distal tubular acidosis mutant of the kidney Anion Exchanger 1 in renal cells
DownloadFall 2014
Distal renal tubular acidosis (dRTA) is a renal disease caused in some cases by mutations in the SLC4A1 gene encoding the kidney anion exchanger 1 (kAE1). Both recessive and dominant mutations result in mis-trafficking of proteins, preventing them from reaching the basolateral membrane of renal...
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Investigating the pathophysiological mechanisms linked to 2 membrane proteins: the choline transporter 1 and the kidney anion exchanger 1
DownloadSpring 2023
Many diseases are caused by inherited mutations. Using molecular genetics and other laboratory techniques, they can be studied in vitro and in vivo. Congenital myasthenic syndromes is one example, for which I created an in-vitro model of the heterozygous mutations in the choline transporter...