Nonsense-mediated mRNA decay (NMD) is a conserved surveillance mechanism that selectively targets mRNA transcripts carrying premature termination codons (PTCs) for rapid degradation in all studied eukaryotes. Mutations that introduce PTCs account for approximately one-third of all inherited genetic disorders, highlighting the importance of NMD in the molecular pathology of many diseases. The experimental findings presented in this thesis demonstrate that the mechanism of Col10a1 NMD is different to previously described NMD pathways and could represent a failsafe NMD mechanism used by genes that have similar gene structures to COL10A1, which would escape the canonical NMD pathway.
Field of Research
110105 Medical Biochemistry: Nucleic Acids 110311 Medical Genetics (excl Cancer Genetics) 060199 Biochemistry and Cell Biology not elsewhere classified
Socio Economic Objective
920116 Skeletal System and Disorders (incl. Arthritis)
Description of original
xvi, 271 pages : illustrations, diagrams, tables, graphs, some coloured
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