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

Journal of Cellular Biochemistry

Volumn 112, Issue 5, 2011, Pages 1250-1258

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

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

ataluren; geneticin; nonsense mutation; peroxisome biogenesis disorder

Indexed keywords

ANTIBIOTIC G 418; ATALUREN; CELL PROTEIN; FATTY ACID; PEX10 PROTEIN; PEX12 PROTEIN; PEX2 PROTEIN; PEX26 PROTEIN; PEX7 PROTEIN; PLASMALOGEN; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

ALLELE; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATABOLISM; CELL ASSAY; CELL CULTURE; CELL VIABILITY; CHO CELL; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG EFFICACY; DRUG SAFETY; EMBRYO; FEMALE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; LIPID METABOLISM; LIPOGENESIS; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEROXISOME; PEROXISOME BIOGENESIS DISORDER; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN STABILITY; REPORTER GENE; SKIN FIBROBLAST;

ALLELES; ANIMALS; CHO CELLS; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; CODON, NONSENSE; CRICETINAE; CRICETULUS; FEMALE; FIBROBLASTS; GENTAMICINS; HUMANS; LIPID METABOLISM; MEMBRANE PROTEINS; OXADIAZOLES; PEROXISOMAL DISORDERS; PLASMALOGENS; RECEPTORS, CYTOPLASMIC AND NUCLEAR;

CRICETULUS GRISEUS;

EID: 79953716256     PISSN: 07302312     EISSN: 10974644     Source Type: Journal    
DOI: 10.1002/jcb.22979     Document Type: Article

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