Mutation in human CLPX elevates levels of δ -aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

Autor: Yien, Yvette Y., Ducamp, Sarah, van der Vorm, Lisa N., Kardon, Julia R., Manceau, Hana, Kannengiesser, Caroline, Bergonia, Hector A., Kafina, Martin D., Karim, Zoubida, Gouya, Laurent, Baker, Tania A., Puy, Hervé, Phillips, John D., Nicolas, Gaël, Paw, Barry H.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2017 Sep . 114(38), E8045-E8052.

Externí odkaz: https://www.jstor.org/stable/26488001

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Autor: Lichtenstein, Daniel A., Crispin, Andrew W., Sendamarai, Anoop K., Campagna, Dean R., Schmitz-Abe, Klaus, Sousa, Cristovao M., Kafina, Martin D., Schmidt, Paul J., Niemeyer, Charlotte M., Porter, John, May, Alison, Patnaik, Mrinal M., Heeney, Matthew M., Kimmelman, Alec, Bottomley, Sylvia S., Paw, Barry H., Markianos, Kyriacos, Fleming, Mark D.

Publikováno v: In Blood 13 October 2016 128(15):1913-1917

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Using the Zebrafish as an Approach to Examine the Mechanisms of Vertebrate Erythropoiesis.

Autor: Kafina MD; Hematology Division, Department of Medicine, Brigham & Women's Hospital, Boston, MA, 02115, USA., Paw BH; Hematology Division, Department of Medicine, Brigham & Women's Hospital, Boston, MA, 02115, USA. bpaw@rics.bwh.harvard.edu.; Department of Medicine, Harvard Medical School, Boston, MA, 02115, USA. bpaw@rics.bwh.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA. bpaw@rics.bwh.harvard.edu.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, 02115, USA. bpaw@rics.bwh.harvard.edu.; Hematology-Oncology Division, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA. bpaw@rics.bwh.harvard.edu.; BWH Hematology, Harvard Institutes of Medicine, Room 616, 77 Avenue Louis Pasteur, Boston, MA, 02115-5727, USA. bpaw@rics.bwh.harvard.edu.

Publikováno v: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2018; Vol. 1698, pp. 11-36.