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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...

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Publicat a:PLoS One
Autors principals: Sultana, Saki, Stewart, Jacklyn, van der Spoel, Aarnoud C.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2020
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Accés en línia: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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