Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 6 of 6 for “"polg"”.
-
Pathogenesis and Therapy of Mitochondrial Diseases
… subunits POLγB. Mutations in the nuclear-encoded POLG gene, coding for POLγA, are a common cause of human disease leading to a spectrum of disorders characterised by mtDNA instability, thus compromising mitochondrial function. Despite being relatively frequent, the molecular pathogenesis of …
-
Whole-exome sequencing of cases with familial cardiomyopathy
… for pathogenicity. The candidate ACM gene POLG was investigated in zebrafish larvae using two genetic manipulations. Firstly, zebrafish polg was disrupted using CRISPR/Cas9 in single-cell embryos and, at three days post-fertilisation, the phenotypic effects were compared to uninjected …
-
Modelling and investigating treatments of childhood inherited mitochondrial diseases in zebrafish.
… elevated lactate. The second two models focus on POLG, the key catalytic protein for mtDNA replication, where I was also able to recapitulate several features of POLG MDDS and show that nucleoside supplementation increase mtDNA copy number in a model with a mutation in the linker region, an area …
-
Investigating Cell-Type-Specific Vulnerability in Mitochondrial Disease Using Stem Cell-Derived Neuronal Models
… mitochondrial DNA polymerase catalytic subunit POLG, while the second focused on the susceptibility of spinal motor neurons to loss of function of the mitochondrial translation release factor MTRFR. Both models successfully recapitulated the key mitochondrial defects observed in patient-derived …
-
Quantifying effects of aging across structures of the mouse auditory system, with in-vitro brain slice preparations
… metabolic cause to all aging processes. The PolG mouse model was created by earlier investigators to test this hypothesis by generating an increased rate of mitochondrial DNA mutations, resulting in increased and diffuse mitochondrial dysfunction. This model ultimately showed an advanced …
-
Genotype and phenotype in mitochondrial disorders
… optic atrophy (OPA1) and autosomal recessive POLG. We have linked to Hospital Episode Statistics, death certificates and the cancer registry. We present survival analysis, causes of death and cancer standardised incidence ratios. Treatment <br>Mitochondrial disorders can cause early death or …