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Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation
The enzyme β-glucosidase 2 (GBA2) is clinically relevant because it is targeted by the drug miglustat (Zavesca(®)) and because it is involved in inherited diseases. Mutations in the GBA2 gene are associated with two neurological diseases on the ataxia-spasticity spectrum, hereditary spastic parapleg...
Gorde:
| Argitaratua izan da: | PLoS One |
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| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Public Library of Science
2020
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7269613/ https://ncbi.nlm.nih.gov/pubmed/32492073 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0233856 |
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