RT info:eu-repo/semantics/masterThesis
T1 Effect of pharmacochaperones in AGT mistargeting
A1 Mastantuoni, Matteo
A2 Máster Universitario en Biomedicina
K1 Enfermedades genéticas
K1 Proteínas
AB Primary hyperoxalurias (PHs) are rare inborn errors of glyoxylate metabolismcharacterized by excessive synthesis and excretion of the metabolic end-product oxalateand the progressive accumulation of insoluble calcium oxalate in the kidney and urinarytract. About one third of the cases of Primary hyperoxaluria type 1 (PH1) is due to a uniqueprotein trafficking defect in which AGT is mistargeted from peroxisomes to mitochondria,where it is metabolically useless. Pharmacological chaperones have been shown to correctprotein misfolding in several genetic diseases. We aimed to test the effect of B6-vitamers (PM, PL, PN) on AGT mitochondrialmistargeting in primary culture of hepatocytes from AGT*LRM mice, which express themutant mistargeting AGT protein (with mutation G170R in the minor haplotype of humanAGT). Using image analysis tools and statistics coefficient to quantify the degree of “AGTmistargeting”.
YR 2018
FD 2018
LK http://riull.ull.es/xmlui/handle/915/7374
UL http://riull.ull.es/xmlui/handle/915/7374
LA en
DS Repositorio institucional de la Universidad de La Laguna
RD 25-nov-2024