Associated Papers
The use of pharmacological chaperones in rare diseases caused by reduced protein stability.
Gil-Martínez J et al.
Proteomics, 2022
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria.
ben Bdira F et al.
Human Molecular Genetics, 2014
Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.
Fortian A et al.
The Journal of Biological Chemistry, 2011
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