RT Journal Article
T1 Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model.
A1 Zhao, Xiaonan
A1 Gazy, Inbal
A1 Hayward, Bruce
A1 Pintado, Elizabeth
A1 Hwang, Ye Hyun
A1 Tassone, Flora
A1 Usdin, Karen
K1 CGG Repeat Expansion Disease
K1 DNA instability
K1 Non-homologous end-joining (NHEJ)
K1 base excision repair (BER)
K1 contraction
K1 double-strand break repair (DSBR)
K1 expansion
K1 mismatch repair (MMR)
K1 mosaicism
K1 transcription coupled repair (TCR)
AB The fragile X-related disorders (FXDs) are a group of clinical conditions that result primarily from an unusual mutation, the expansion of a CGG-repeat tract in exon 1 of the FMR1 gene. Mouse models are proving useful for understanding many aspects of disease pathology in these disorders. There is also reason to think that such models may be useful for understanding the molecular basis of the unusual mutation responsible for these disorders. This review will discuss what has been learnt to date about mechanisms of repeat instability from a knock-in FXD mouse model and what the implications of these findings may be for humans carrying expansion-prone FMR1 alleles.
SN 2076-3425
YR 2019
FD 2019-03-01
LK https://hdl.handle.net/10668/24724
UL https://hdl.handle.net/10668/24724
LA en
DS RISalud
RD Apr 17, 2025