Mutations in COQ8B found in patients with steroid-resistant nephrotic syndrome Alter COQ8B function

Autor: Vazquez-Fonseca, L., Doimo, M., Calderan, C., Desbats, M. A., Acosta, M. J., Cerqua, C., Cassina, M., Ashraf, S., Hildebrandt, Friedhelm, Sartori, G., Navas, Plácido, Trevisson, E., Salviati, L.

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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Resumen del póster presentado a la XI Reunión Anual CIBERER, celebrada en Castelldefels, Barcelona del 12 al 14 de marzo de 2018.
The coenzyme Q (CoQ) biosynthesis pathway has been well studied in yeast and comprises at least 12 COQ genes. COQ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0e5bef5d5d99fcbb7a6a06b14cdf5850
http://hdl.handle.net/10261/190232

The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model

Autor: Charles Kung, Carlo Brugnara, Maria Teresa Valenti, Sebastien Ronseaux, Iana Iatcenko, Tomas Ganz, Anne Janin, Penelope A. Kosinski, Rohini Narayanaswamy, Leonardo Salviati, Achille Iolascon, Francesca Carlomagno, Shaoxia Yu, Giorgia Federico, Enrica Federti, Lucia De Franceschi, Chun-Ling Jung, Alessandro Matte, Roberta Russo, Francesco Michelangelo Turrini, Elisabetta Beneduce, Christophe Leboeuf, Maria Andrea Desbats, Lenny Dang

Publikováno v: The Journal of clinical investigation
The Journal of clinical investigation, 2021, 131 (10), pp.e144206. ⟨10.1172/jci144206⟩
J Clin Invest

International audience; Anemia in β-thalassemia is related to ineffective erythropoiesis and reduced red cell survival. Excess free heme and accumulation of unpaired α-globin chains impose substantial oxidative stress on β-thalassemic erythroblast

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d41cc272a7692f282ce5e5195c770def
http://hdl.handle.net/11577/3443135