Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.

@article{Jalanko1998MiceWA,
  title={Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.},
  author={Anu Jalanko and K Tenhunen and Cindy E. McKinney and Mary E Lamarca and Juhani Rapola and Taina Autti and Raimo Joensuu and Tuula Manninen and Ilkka Sipil{\"a} and Sami Ikonen and Paavo J. Riekkinen and Edward I. Ginns and Leena Peltonen},
  journal={Human molecular genetics},
  year={1998},
  volume={7 2},
  pages={
          265-72
        }
}
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 have no detectable AGA activity and excrete aspartylglucosamine in their urine… 

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TLDR
The results show that ERT might be efficient in treating the somatic tissues of AGU, but more efficient ways to treat the disease in neuronal tissues are needed.
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TLDR
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Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria
TLDR
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Expression and Endocytosis of Lysosomal Aspartylglucosaminidase in Mouse Primary Neurons
Aspartylglucosaminuria (AGU) is a neurodegenerative lysosomal storage disease that is caused by mutations in the gene encoding for a soluble hydrolase, aspartylglucosaminidase (AGA). In this study,
AN IN VITRO MODEL FOR LYSOSOMAL STORAGE DISEASES USING ASPARTYLGLUCOSAMINURIA PATIENT CELLS
TLDR
This research established a reliable in vitro model of LSD to enable repeatable experiments for drug development purposes and showed significantly higher AGA activity in the healthy cells when compared to AGU cells, and the protein expression analysis revealed more of the precursor form of AGA inAGU cells.
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