Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations

Peroxisome biogenesis disorders (PBDs) are multisystemic autosomal recessive disorders resulting from mutations in PEX genes required for normal peroxisome assembly and metabolic activities. Here, we evaluated the potential effectiveness of aminoglycoside G418 (geneticin) and PTC124 (ataluren) nonse...

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Autors principals: Dranchak, Patricia K., Di Pietro, Erminia, Snowden, Ann, Oesch, Nathan, Braverman, Nancy E., Steinberg, Steven J., Hacia, Joseph G.
Format: Artigo
Idioma:Inglês
Publicat: 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3136445/
https://ncbi.nlm.nih.gov/pubmed/21465523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcb.22979
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