Literature DB >> 17562599

Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine.

D Pospisilova1, J Cmejlova, J Hak, T Adam, R Cmejla.   

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Year:  2007        PMID： 17562599     DOI： 10.3324/haematol.11498

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  36 in total

1.  The mTORC1/4E-BP pathway coordinates hemoglobin production with L-leucine availability.

Authors:  Jacky Chung; Daniel E Bauer; Alireza Ghamari; Christopher P Nizzi; Kathryn M Deck; Paul D Kingsley; Yvette Y Yien; Nicholas C Huston; Caiyong Chen; Iman J Schultz; Arthur J Dalton; Johannes G Wittig; James Palis; Stuart H Orkin; Harvey F Lodish; Richard S Eisenstein; Alan B Cantor; Barry H Paw
Journal:  Sci Signal       Date:  2015-04-14       Impact factor: 8.192

Review 2.  Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.

Authors:  Jeffrey M Lipton; Steven R Ellis
Journal:  Hematol Oncol Clin North Am       Date:  2009-04       Impact factor: 3.722

3.  L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway.

Authors:  Elspeth M Payne; Maria Virgilio; Anupama Narla; Hong Sun; Michelle Levine; Barry H Paw; Nancy Berliner; A Thomas Look; Benjamin L Ebert; Arati Khanna-Gupta
Journal:  Blood       Date:  2012-06-25       Impact factor: 22.113

4.  Hepcidin levels in Diamond-Blackfan anemia reflect erythropoietic activity and transfusion dependency.

Authors:  Dagmar Pospisilova; Dusan Holub; Zuzana Zidova; Lucie Sulovska; Jiri Houda; Vladimir Mihal; Ivana Hadacova; Lenka Radova; Petr Dzubak; Marian Hajduch; Vladimir Divoky; Monika Horvathova
Journal:  Haematologica       Date:  2014-04-11       Impact factor: 9.941

Review 5.  Marrow failure: a window into ribosome biology.

Authors:  Davide Ruggero; Akiko Shimamura
Journal:  Blood       Date:  2014-09-18       Impact factor: 22.113

Review 6.  How I treat Diamond-Blackfan anemia.

Authors:  Adrianna Vlachos; Ellen Muir
Journal:  Blood       Date:  2010-07-22       Impact factor: 22.113

7.  tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis-Cincinnati type.

Authors:  Kristin E N Watt; Cynthia L Neben; Shawn Hall; Amy E Merrill; Paul A Trainor
Journal:  Hum Mol Genet       Date:  2018-08-01       Impact factor: 6.150

Review 8.  Probing the mechanisms underlying human diseases in making ribosomes.

Authors:  Katherine I Farley; Susan J Baserga
Journal:  Biochem Soc Trans       Date:  2016-08-15       Impact factor: 5.407

9.  A Regulatory Response to Ribosomal Protein Mutations Controls Translation, Growth, and Cell Competition.

Authors:  Chang-Hyun Lee; Marianthi Kiparaki; Jorge Blanco; Virginia Folgado; Zhejun Ji; Amit Kumar; Gerard Rimesso; Nicholas E Baker
Journal:  Dev Cell       Date:  2018-08-02       Impact factor: 12.270

10.  L-Leucine improves the anaemia in models of Diamond Blackfan anaemia and the 5q- syndrome in a TP53-independent way.

Authors:  Anupama Narla; Elspeth M Payne; Nirmalee Abayasekara; Slater N Hurst; David M Raiser; A Thomas Look; Nancy Berliner; Benjamin L Ebert; Arati Khanna-Gupta
Journal:  Br J Haematol       Date:  2014-08-07       Impact factor: 6.998
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