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Article

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

Journal of cellular biochemistry - 1 May 2011

Dranchak Patricia K, Di Pietro Erminia, Snowden Ann, Oesch Nathan, Braverman Nancy E, Steinberg Steven J, Hacia Joseph G

Abstract excerpt

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) nonsense suppression therapies for the treatment of PBD patients with disease-causing nonsense mutations. PBD patient...

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Identifiers

PMID: 21465523
DOI: 10.1002/jcb.22979
PMCID: PMC3136445

Genes

PEX12
PEX2
PEX7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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