Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy
Sign Up to like & getrecommendations! Published in 2024 at "Movement Disorders"
DOI: 10.1002/mds.29977
Abstract: Neuroaxonal dystrophy (NAD) is a group of inherited neurodegenerative disorders characterized primarily by the presence of spheroids (swollen axons) throughout the central nervous system. In humans, NAD is heterogeneous, both clinically and genetically. NAD has… read more here.
Keywords: base deletion; neuroaxonal dystrophy; single base; rnf170 single ... See more keywords
Heterotrimeric PCNA increases the activity and fidelity of Dbh, a Y-family translesion DNA polymerase prone to creating single-base deletion mutations.
Sign Up to like & getrecommendations! Published in 2020 at "DNA repair"
DOI: 10.1016/j.dnarep.2020.102967
Abstract: Dbh is a Y-family translesion DNA polymerase from Sulfolobus acidocaldarius, an archaeal species that grows in harsh environmental conditions. Biochemically, Dbh displays a distinctive mutational profile, creating single-base deletion mutations at extraordinarily high frequencies (up… read more here.
Keywords: base deletion; deletion mutations; single base; dna ... See more keywords