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Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype
Gaucher disease is caused by mutations in GBA1 encoding acid β-glucosidase (GCase). Saposin C enhances GCase activity and protects GCase from intracellular proteolysis. Structure simulations indicated that the mutant GCases, N370S (0 S), V394L (4L) and D409V(9V)/H(9H), had altered function. To inves...
Gorde:
| Argitaratua izan da: | Sci Rep |
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| Egile Nagusiak: | , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group UK
2019
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6447580/ https://ncbi.nlm.nih.gov/pubmed/30944381 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-41914-7 |
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