Browsing by Subject "Mutation"
Now showing items 1-5 of 5
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Insights into the pre-initiation events of bacteriophage 06 RNA-dependent RNA polymerase: towards the assembly of a productive binary complex
(Oxford Univ Press, 2009)The RNA-dependent RNA polymerase (RdRP) of double-stranded RNA (dsRNA) viruses performs both RNA replication and transcription. In order to initiate RNA polymerization, viral RdRPs must be able to interact with the incoming ... -
New insights into the survival mechanisms of rifampicin-resistant Mycobacterium tuberculosis
(Oxford Univ Press, 2016)Objectives: Rifampicin is considered the most important antibiotic for treating TB, but unfortunately Mycobacterium tuberculosis is rapidly developing resistance to this drug. Despite the fervent research efforts to date, ... -
The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential
(Oxford Univ Press, 2014)Mutations of mitochondrial DNA are linked to many human diseases. Despite the identification of a large number of variants in the mitochondrially encoded rRNA (mt-rRNA) genes, the evidence supporting their pathogenicity ... -
Toward a mtDNA locus-specific mutation database using the LOVD platform
(Wiley, 2012)The Human Variome Project (HVP) is a global effort to collect and curate all human genetic variation affecting health. Mutations of mitochondrial DNA (mtDNA) are an important cause of neurogenetic disease in humans; however, ... -
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)
(Elsevier, 2019)We used a comprehensive metabolomics approach to study the altered urinary metabolome of two mitochondrial myopathy, encephalopathy lactic acidosis and stroke like episodes (MELAS) cohorts carrying the m.3243A>G mutation. The ...