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