Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

The mitochondrial Elongation Factor Tu (EF-Tu), encoded by the TUFM gene, is a highly conserved GTPase, which is part of the mitochondrial protein translation machinery. In its activated form it delivers the aminoacyl-tRNAs to the A site of the mitochondrial ribosome. We report here on a baby girl with severe infantile macrocystic leukodystrophy with micropolygyria and a combined defect of comp...

investigating the integration of translation technologies into translation programs in iranian universities: basis for a syllabus design in translation technology

today, information technology and computers are indispensable tools of any profession and translation technologies have become an indispensable part of translator’s workstation. with the increasing demands for high productivity and speed as well as consistency and with the rise of new demands for translation and localization, it is necessary for translators to be familiar with market demands an...

Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling.

The JAK2V617F mutation is associated with distinct myeloproliferative neoplasms, including polycythemia vera (PV) and essential thrombocythemia (ET), but it remains unclear how it generates disparate disorders. By comparing clonally-derived mutant and wild-type cells from individual patients, we demonstrate that the transcriptional consequences of JAK2V617F are subtle, and that JAK2V617F-hetero...

a novel missense mutation, e1623g, in the human factor viii gene associated with moderate haemophilia a

introduction: haemophilia a is the most common inherited x-linked recessive bleeding disorder. the severity of the resultant bleeding diathesis depends on the fviii levels associated with the mutation. analysis of carrier state can be made indirectly by dna linkage analysis or directly by identifying the mutation that leads to the disease. the aim of this study was to identification of the caus...

Function of Elongation Factor P in Translation