Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria

Proceedings of the National Academy of Sciences of the United States of America

Volumn 110, Issue 45, 2013, Pages 18238-18243

  Blouin, Jean Marc ^a,b   Duchartre, Yann ^a,b   Costet, Pierre ^c   Lalanne, Magalie ^a,b   Ged, Cécile ^a,b   Lain, Ana ^d   Millet, Oscar ^d   De Verneuil, Hubert ^a,b   Richard, Emmanuel ^a,b  

^a INSERM   (France)

^b Laboratory of Excellence GR Ex   (France)

^c UNIVERSITÉ DE BORDEAUX   (France)

^d CIC BIOGUNE   (Spain)

Author keywords

Enzyme instability; G nther's disease; Heme biosynthetic pathway; Pharmacological therapy; Protein misfolding

Indexed keywords

BORTEZOMIB; HEMOGLOBIN; KANAMYCIN KINASE; MUTANT PROTEIN; PORPHYRIN; PROTEASOME INHIBITOR; UROPORPHYRIN; UROPORPHYRINOGEN III SYNTHASE;

ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; BLOOD TOXICITY; CELLULAR DISTRIBUTION; CONGENITAL ERYTHROPOIETIC PORPHYRIA; GENOTYPE; HEMOLYTIC ANEMIA; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; MISSENSE MUTATION; MOUSE; NONHUMAN; PHENOTYPE; PHOTOSENSITIVITY; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN CONFORMATION; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN HOMEOSTASIS; PROTEIN METABOLISM; PROTEIN SECONDARY STRUCTURE; PROTEIN STABILITY; SPLENOMEGALY; TRANSCRIPTION INITIATION;

ENZYME INSTABILITY; GÜNTHER'S DISEASE; HEME BIOSYNTHETIC PATHWAY; PHARMACOLOGICAL THERAPY; PROTEIN MISFOLDING;

ANIMALS; BLOTTING, WESTERN; BORONIC ACIDS; CIRCULAR DICHROISM; DNA PRIMERS; ERYTHROID CELLS; HUMANS; MICE; MODELS, MOLECULAR; MUTATION, MISSENSE; PORPHYRIA, ERYTHROPOIETIC; PORPHYRINS; PROTEASOME INHIBITORS; PROTEIN FOLDING; PYRAZINES; REAL-TIME POLYMERASE CHAIN REACTION; SPECTROMETRY, FLUORESCENCE; UROPORPHYRINOGEN III SYNTHETASE;

EID: 84887296191     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1314177110     Document Type: Article

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