Article
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.
Human molecular genetics - 1 Feb 1998
Jalanko A, Tenhunen K, McKinney C E, LaMarca M E, Rapola J, Autti T, Joensuu R, Manninen T, Sipilä I, Ikonen S, Riekkinen P, Ginns E I, Peltonen L
Abstract excerpt
Aspartyglucosaminuria (AGU) is a lysosomal storage disease with autosomal recessive inheritance that is caused by deficient activity of aspartylglucosaminidase (AGA), a lysosomal enzyme belonging to the newly described enzyme family of N-terminal hydrolases. An AGU mouse model was generated by targeted disruption of the AGA gene designed to mimic closely one human disease mutation. These homozygous mutant mice...
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