Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.

Autor: Harry F Heijnen, Richard van Wijk, Tamara C Pereboom, Yvonne J Goos, Cor W Seinen, Brigitte A van Oirschot, Rowie van Dooren, Marc Gastou, Rachel H Giles, Wouter van Solinge, Taco W Kuijpers, Hanna T Gazda, Marc B Bierings, Lydie Da Costa, Alyson W MacInnes

Publikováno v: PLoS Genetics, Vol 10, Iss 5, p e1004371 (2014)

Mutations affecting the ribosome lead to several diseases known as ribosomopathies, with phenotypes that include growth defects, cytopenia, and bone marrow failure. Diamond-Blackfan anemia (DBA), for example, is a pure red cell aplasia linked to the

Externí odkaz: https://doaj.org/article/25556d82d8954cb899e0a1e170a1ff3c

Reduced Volume and Faster Infusion Rate of Activated Prothrombin Complex Concentrate: A Phase 3b/4 Trial in Adults with Hemophilia A with Inhibitors

Autor: Bülent Zülfikar, Johnny Mahlangu, Salim Mohamed Nekkal, Cecil Ross, Noppacharn Uaprasert, Jerzy Windyga, Carmen Escuriola Ettingshausen, Bettina Ploder, Aurelia Lelli, Hanna T. Gazda

Publikováno v: TH Open, Vol 08, Iss 03, Pp e273-e282 (2024)

Background Activated prothrombin complex concentrate (aPCC) is indicated for bleed treatment and prevention in patients with hemophilia with inhibitors. The safety and tolerability of intravenous aPCC at a reduced volume and faster infusion rates wer

Externí odkaz: https://doaj.org/article/d6aef7dc90ac43e488c3d85c23242dd4

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

Autor: Benjamin L. Ebert, Anindita Roy, Barbara Zieger, Caleb A. Lareau, Marcin W. Wlodarski, Vijay G. Sankaran, Philip Ancliff, Namrata Gupta, Nour J. Abdulhay, Charlotte M. Niemeyer, Hanna T. Gazda, Jeffrey M. Verboon, Stacey Gabriel, Miriam Erlacher, Leif S. Ludwig, Xiaoli Mi, Esther A. Obeng, Rami Khoriaty, Claudia Fiorini, Jacob C. Ulirsch

Studies of allelic variation underlying genetic blood disorders have provided important insights into human hematopoiesis. Most often, the identified pathogenic mutations result in loss-of-function or missense changes. However, assessing the pathogen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23654e534b656285f62dc7904aebe6fd
https://doi.org/10.1084/jem.20181625

The Genetic Landscape of Diamond-Blackfan Anemia

Autor: Aaron Cheng, David J. Amor, Colin A. Sieff, Nour J. Abdulhay, Claudia Fiorini, David G. Nathan, Beryl B. Cummings, Bertil Glader, Leif S. Ludwig, Peter E. Newburger, Stacey Gabriel, Giulio Genovese, Anupama Narla, Daniel G. MacArthur, Shideh Kazerounian, Alan H. Beggs, Edyta Niewiadomska, Namrata Gupta, Elaine T. Lim, Ron Do, Adrianna Vlachos, Casie A. Genetti, Katherine R. Chao, Pierre-Emmanuel Gleizes, Jeffrey M. Verboon, Jeffrey M. Lipton, Hanna T. Gazda, Lydie Da Costa, Jacob C. Ulirsch, Andrei A. Korostelev, Robert E. Handsaker, Eric S. Lander, Daniel Yuan, Steven A. McCarroll, Michał Matysiak, Vijay G. Sankaran, Monkol Lek, Michael H. Guo, Eva Atsidaftos, Anne H. O’Donnell-Luria, Marie-Françoise O'Donohue, Nathalie Montel-Lehry

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (6), pp.930-947. ⟨10.1016/j.ajhg.2018.10.027⟩
Prof. Lander via Courtney Crummett

Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 1 in 100,000 to 200,000 live births and has been associated with mutations in components of the ribosome. In order to characterize the genetic landscape of this genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92b986a5d91a95cc9f563054c8ec96f0
https://hal.archives-ouvertes.fr/hal-02328160

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

Autor: Leif S. Ludwig, Jacob C. Ulirsch, Vikram Govind Panse, Steven A. Carr, D. R. Mani, Harrison Specht, Mathias Munschauer, Hanna T. Gazda, Olga K. Weinberg, Claudia Fiorini, Jesse M. Engreitz, Hasmik Keshishian, Sean K. McFarland, Karen W. Gripp, Aviv Regev, Winston Y. Lee, Vijay G. Sankaran, Geraldine S. Pinkus, Nour J. Abdulhay, John Lian, Rajiv K. Khajuria, Lee Gehrke, Steven R. Ellis, Charles P. Fulco, Eric S. Lander, Marko Jovanovic, Sabina Schütz

Publikováno v: PMC

Blood cell formation is classically thought to occur through a hierarchical differentiation process, although recent studies have shown that lineage commitment may occur earlier in hematopoietic stem and progenitor cells (HSPCs). The relevance to hum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a77f85830d56ed22ec311e075d0ca096
https://europepmc.org/articles/PMC5866246/