{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:18:50Z","timestamp":1790813930952,"version":"4.1.0"},"reference-count":50,"publisher":"Charles University in Prague, Karolinum Press","issue":"6","license":[{"start":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T00:00:00Z","timestamp":1714003200000},"content-version":"vor","delay-in-days":3402,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T00:00:00Z","timestamp":1714003200000},"content-version":"tdm","delay-in-days":3402,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["UNCE 204011"],"award-info":[{"award-number":["UNCE 204011"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["PRVOUK P24\/LF1\/3"],"award-info":[{"award-number":["PRVOUK P24\/LF1\/3"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fol. Biol."],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>\n                    Porphyrias are metabolic disorders resulting from mutations in haem biosynthetic pathway genes. Hepatoerythropoietic porphyria (HEP) is a rare type of porphyria caused by the deficiency of the fifth enzyme (uroporphyrinogen decarboxylase, UROD) in this pathway. The defect in the enzymatic activity is due to biallelic mutations in the\n                    <jats:italic>UROD<\/jats:italic>\n                    gene. Currently, 109 UROD mutations are known. The human disease has an early onset, manifesting in infancy or early childhood with red urine, skin photosensitivity in sun-exposed areas, and hypertrichosis. Similar defects and links to photosensitivity and hepatopathy exist in several animal models, including zebrafish and mice. In the present study, we report a new mutation in the\n                    <jats:italic>UROD<\/jats:italic>\n                    gene in Egyptian patients with HEP. We show that the homozygous c.T163A missense mutation leads to a substitution of a conserved phenylalanine (amino acid 55) for isoleucine in the enzyme active site, causing a dramatic decrease in the enzyme activity (19 % of activity of wild-type enzyme). Inspection of the UROD crystal structure shows that Phe-55 contacts the substrate and is located in the loop that connects helices 2 and 3. Phe-55 is strictly conserved in both prokaryotic and eukaryotic UROD. The F55I substitution likely interferes with the enzyme-substrate interaction.\n                  <\/jats:p>","DOI":"10.14712\/fb2015061060219","type":"journal-article","created":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T16:19:17Z","timestamp":1714061957000},"page":"219-226","source":"Crossref","is-referenced-by-count":7,"title":["Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients"],"prefix":"10.14712","volume":"61","author":[{"given":"M. S.","family":"Farrag","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Mikula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Richard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Saudek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"De Verneuil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavel","family":"Mart\u00e1sek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5727","published-online":{"date-parts":[[2024,4,25]]},"reference":[{"key":"fb2015061060219_1","unstructured":"Anderson, K. E., Sassa, S., Bishop, D. F., Desnick, R. J. (2001) Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: The Metabolic and Molecular Bases of Inherited Disease, eds. Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., pp. 2961-3062. McGraw-Hill, New York, NY."},{"key":"fb2015061060219_2","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1111\/j.1365-2133.2004.06101.x","volume":"151","author":"Armstrong","year":"2004","journal-title":"Br. J. Dermatol."},{"key":"fb2015061060219_3","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1182\/blood.V95.5.1565.005k42_1565_1571","volume":"95","author":"Bulaj","year":"2000","journal-title":"Blood"},{"key":"fb2015061060219_4","first-page":"529","volume":"146","author":"Cantore-Francis","year":"2010","journal-title":"Arch. Dermatol."},{"key":"fb2015061060219_5","first-page":"845","volume":"48","author":"Cruz-Rojo","year":"2002","journal-title":"Cell. Mol. 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