Zobrazeno 1 - 10
of 322
pro vyhledávání: '"EPP, erythropoietic protoporphyria"'
Autor:
Juliana Bragazzi Cunha, Jordan A. Shavit, Herbert L. Bonkovsky, Dhiman Maitra, Jared S. Elenbaas, M. Bishr Omary
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 8, Iss 4, Pp 535-548 (2019)
Cellular and Molecular Gastroenterology and Hepatology
Cellular and Molecular Gastroenterology and Hepatology
Genetic porphyrias comprise eight diseases caused by defects in the heme biosynthetic pathway that lead to accumulation of heme precursors. Consequences of porphyria include photosensitivity, liver damage and increased risk of hepatocellular carcinom
Autor:
Jian B. Pan, Amer Assal, Edoardo Migliori, Pawel Muranski, Rodica Ciubotariu, Marcus R. Pereira, Kara Cicero, Markus Y. Mapara, Mithil Soni, Hei T. Chan
Publikováno v:
Cytotherapy
The outbreak of coronavirus disease 2019 (COVID-19) has disproportionately affected patients with comorbidities, including recipients of solid organ and hematopoietic stem cell transplants (SCT). Upon recovery from COVID-19, the degree of the immunol
Publikováno v:
The Journal of Biological Chemistry
Heme, a near ubiquitous cofactor, is synthesized by most organisms. The essential step of insertion of iron into the porphyrin macrocycle is mediated by the enzyme ferrochelatase. Several ferrochelatases have been characterized, and it has been exper
Autor:
Laurie K. Jackson, Samantha Gillis, Aidan Danoff, Leah O'Neill, Hector A. Bergonia, Gaël Nicolas, Hervé Puy, Mark Perfetto, Catherine M. Rondelli, John D. Phillips, Richard West, Yvette Y. Yien
Publikováno v:
The Journal of Biological Chemistry
Heme plays a critical role in catalyzing life-essential redox reactions in all cells, and its synthesis must be tightly balanced with cellular requirements. Heme synthesis in eukaryotes is tightly regulated by the mitochondrial AAA+ unfoldase CLPX (c
Autor:
Tadamichi Shimizu, Hajime Nakano, Megumi Mizawa, Ryotaro Torai, Fumina Furukawa, Daisuke Sawamura, Teruhiko Makino
Publikováno v:
JAAD Case Reports
JAAD Case Reports, Vol 3, Iss 3, Pp 169-171 (2017)
JAAD Case Reports, Vol 3, Iss 3, Pp 169-171 (2017)
Publikováno v:
Orphanet Journal of Rare Diseases. 9/12/2024, Vol. 19 Issue 1, p1-53. 53p.
Autor:
Wang, Qi1 (AUTHOR), Zhuang, Jun ling1 (AUTHOR), Han, Bing1 (AUTHOR), Chen, Miao1 (AUTHOR) chenm@pumch.cn, Zhao, Bin2 (AUTHOR) zhaobin@pumch.cn
Publikováno v:
Orphanet Journal of Rare Diseases. 8/1/2024, Vol. 19 Issue 1, p1-10. 10p.
Autor:
Devi Gunasekaran, Anu Kiruba1 archanasingal@gmail.com, Singal, Archana1
Publikováno v:
Indian Journal of Dermatology, Venereology & Leprology. Jul/Aug2024, Vol. 90 Issue 4, p542-548. 7p.
Autor:
Moutapam-Ngamby—Adriaansen, Yannick1,2 (AUTHOR) yannick8mna@gmail.com, Maillot, François1,3,4,5 (AUTHOR), Labarthe, François3,5,6 (AUTHOR), Lioger, Bertrand2 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 2/14/2024, Vol. 19 Issue 1, p1-18. 18p.
Autor:
Khan, Javeriah1 (AUTHOR), Hashmi, Muhammad Usman2 (AUTHOR), Noor, Nabeeha3 (AUTHOR), Khan, Ahmad Jamal4 (AUTHOR), Shrateh, Oadi N.5 (AUTHOR) oadi.shrateh@students.alquds.edu, Tahir, Muhammad Junaid6 (AUTHOR)
Publikováno v:
Journal of Medical Case Reports. 11/14/2023, Vol. 17 Issue 1, p1-6. 6p.