{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T15:45:14Z","timestamp":1781106314266,"version":"3.54.1"},"reference-count":35,"publisher":"National Academy of Sciences","issue":"45","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2013,11,5]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    The genetic disease congenital erythropoietic porphyria (CEP) results from the accumulation of toxic porphyrins owing to an enzymatic uroporphyrinogen III synthase (UROS) defect. We have already shown that the UROS\n                    <jats:sup>C73R<\/jats:sup>\n                    and UROS\n                    <jats:sup>P248Q<\/jats:sup>\n                    mutants, usually associated with a severe phenotype, conserve partial intrinsic enzymatic activity but suffer from kinetic instability and premature degradation by the proteasome pathway. We now demonstrate that treatment with a clinically approved proteasome inhibitor could rescue UROS mutant expression in human erythroid cells and reverse the skin photosensitivity in homozygous\n                    <jats:italic>Uros<\/jats:italic>\n                    <jats:sup>P248Q<\/jats:sup>\n                    CEP mice. Based on our understanding of the biochemical mechanism of UROS enzymatic deficiency, these innovative results open the way for a pharmacologic treatment of CEP disease as an alternative to bone marrow transplantation.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1314177110","type":"journal-article","created":{"date-parts":[[2013,10,21]],"date-time":"2013-10-21T22:57:55Z","timestamp":1382396275000},"page":"18238-18243","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":32,"title":["Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria"],"prefix":"10.1073","volume":"110","author":[{"given":"Jean-Marc","family":"Blouin","sequence":"first","affiliation":[{"name":"Bioth\u00e9rapies des Maladies G\u00e9n\u00e9tiques et Cancers, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U1035, Universit\u00e9 Victor Segalen Bordeaux, F-33000 Bordeaux, France;"},{"name":"Laboratory of Excellence GR-EX, F-75522 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Duchartre","sequence":"additional","affiliation":[{"name":"Bioth\u00e9rapies des Maladies G\u00e9n\u00e9tiques et Cancers, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U1035, Universit\u00e9 Victor Segalen Bordeaux, F-33000 Bordeaux, France;"},{"name":"Laboratory of Excellence GR-EX, F-75522 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Costet","sequence":"additional","affiliation":[{"name":"Animalerie Sp\u00e9cialis\u00e9e, Universit\u00e9 de Bordeaux, F-33076 Bordeaux, France; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magalie","family":"Lalanne","sequence":"additional","affiliation":[{"name":"Bioth\u00e9rapies des Maladies G\u00e9n\u00e9tiques et Cancers, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U1035, Universit\u00e9 Victor Segalen Bordeaux, F-33000 Bordeaux, France;"},{"name":"Laboratory of Excellence GR-EX, F-75522 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Ged","sequence":"additional","affiliation":[{"name":"Bioth\u00e9rapies des Maladies G\u00e9n\u00e9tiques et Cancers, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U1035, Universit\u00e9 Victor Segalen Bordeaux, F-33000 Bordeaux, France;"},{"name":"Laboratory of Excellence GR-EX, F-75522 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Lain","sequence":"additional","affiliation":[{"name":"Structural Biology Unit, CIC bioGUNE, 48160 Derio, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"Millet","sequence":"additional","affiliation":[{"name":"Structural Biology Unit, CIC bioGUNE, 48160 Derio, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hubert","family":"de Verneuil","sequence":"additional","affiliation":[{"name":"Bioth\u00e9rapies des Maladies G\u00e9n\u00e9tiques et Cancers, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U1035, Universit\u00e9 Victor Segalen Bordeaux, F-33000 Bordeaux, France;"},{"name":"Laboratory of Excellence GR-EX, F-75522 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Richard","sequence":"additional","affiliation":[{"name":"Bioth\u00e9rapies des Maladies G\u00e9n\u00e9tiques et Cancers, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U1035, Universit\u00e9 Victor Segalen Bordeaux, F-33000 Bordeaux, France;"},{"name":"Laboratory of Excellence GR-EX, F-75522 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2013,10,21]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-08-092388-8.50009-1"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2012.11154.x"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.2174\/156652308784746477"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.007"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11684-011-0159-1"},{"key":"e_1_3_3_6_2","first-page":"53","article-title":"Congenital erythropoietic porphyria: Mutation update and correlations between genotype and phenotype","volume":"55","author":"Ged C","year":"2009","unstructured":"C Ged, F Moreau-Gaudry, E Richard, E Robert-Richard, H de Verneuil, Congenital erythropoietic porphyria: Mutation update and correlations between genotype and phenotype. 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