Journal article icon

Journal article

Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies.

Abstract:

Patients with the 5q- syndrome and Diamond-Blackfan anemia (DBA) suffer from a severe macrocytic anemia. The 5q- syndrome and DBA are disorders of aberrant ribosome biogenesis (ribosomopathies) and haploinsufficiency of the ribosomal protein genes RPS14 and RPS19, respectively, underlies the anemia found in these disorders. Erythroblasts obtained from patients with the 5q- syndrome and DBA show impaired mRNA translation and this defect in translation may represent a potential therapeutic targ...

Expand abstract

Actions


Access Document


Publisher copy:
10.1016/j.jbior.2012.09.002

Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Clinical Lab Sciences, Biomedical Research Centre
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford
Role:
Author
Journal:
Advances in biological regulation
Volume:
53
Issue:
1
Pages:
8-17
Publication date:
2013-01-05
DOI:
EISSN:
2212-4934
ISSN:
2212-4926
URN:
uuid:1004059e-5714-49db-82dc-e7e74e5aa762
Source identifiers:
354107
Local pid:
pubs:354107

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP