Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria
SN Ashley, JML Nordin, EL Buza, JA Greig… - Molecular genetics and …, 2018 - Elsevier
Argininosuccinic aciduria (ASA) is the second most common genetic disorder affecting the
urea cycle. The disease is caused by deleterious mutations in the gene encoding
argininosuccinate lyase (ASL); total loss of ASL activity results in severe neonatal onset of
the disease, which is characterized by hyperammonemia within a few days of birth that can
rapidly progress to coma and death. The long-term complications of ASA, such as
hypertension and neurocognitive deficits, appear to be resistant to the current treatment …
urea cycle. The disease is caused by deleterious mutations in the gene encoding
argininosuccinate lyase (ASL); total loss of ASL activity results in severe neonatal onset of
the disease, which is characterized by hyperammonemia within a few days of birth that can
rapidly progress to coma and death. The long-term complications of ASA, such as
hypertension and neurocognitive deficits, appear to be resistant to the current treatment …
