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

Journal article

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...

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Authors: Boultwood, J; Yip, B; Vuppusetty, C; Pellagatti, A; Wainscoat, J

• Journal: Advances in biological regulation
• Volume: 53
• Issue: 1
• Pages: 8-17
• Publication date: 2013-01-01
• DOI: 10.1016/j.jbior.2012.09.002
• EISSN: 2212-4934
• ISSN: 2212-4926
• Language: English
• Keywords: Anemia, Diamond-Blackfan; Protein Biosynthesis; Ribosomes; Chromosome Deletion; Signal Transduction; Anemia, Macrocytic; Haploinsufficiency; Gene Expression Regulation; Erythroblasts; Leucine; Ribosomal Proteins; Animals; Chromosomes, Human, Pair 5; Humans; TOR Serine-Threonine Kinases