Multifarious functions of the fragile X mental retardation protein

JK Davis, K Broadie - Trends in Genetics, 2017 - cell.com
Fragile X syndrome (FXS), a heritable intellectual and autism spectrum disorder (ASD),
results from the loss of Fragile X mental retardation protein (FMRP). This …

FMRP promotes transcription-coupled homologous recombination via facilitating TET1-mediated m5C RNA modification demethylation

H Yang, Y Wang, Y Xiang, T Yadav… - Proceedings of the …, 2022 - National Acad Sciences
RNA modifications regulate a variety of cellular processes including DNA repair. The RNA
methyltransferase TRDMT1 generates methyl-5-cytosine (m5C) on messenger RNA (mRNA) …

[HTML][HTML] Modeling Fragile X Syndrome in Drosophila

M Drozd, B Bardoni, M Capovilla - Frontiers in Molecular …, 2018 - frontiersin.org
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a
hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental …

The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis

A Chatterjee, S Saha, A Chakraborty… - PLoS …, 2015 - journals.plos.org
DNA strand-breaks (SBs) with non-ligatable ends are generated by ionizing radiation,
oxidative stress, various chemotherapeutic agents, and also as base excision repair (BER) …

[PDF][PDF] Replication stress induces global chromosome breakage in the fragile X genome

A Chakraborty, P Jenjaroenpun, J Li, S El Hilali… - Cell reports, 2020 - cell.com
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the
FMR1 gene and deficiency of a functional FMRP protein. FMRP is known as a translation …

Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3

R Gao, Y Liu, A Silva-Fernandes, X Fang… - PLoS …, 2015 - journals.plos.org
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an
untreatable autosomal dominant neurodegenerative disease, and the most common such …

Novel FMRP interaction networks linked to cellular stress

MS Taha, F Haghighi, A Stefanski… - The FEBS …, 2021 - Wiley Online Library
Silencing of the fragile X mental retardation 1 (FMR1) gene and consequently lack of
synthesis of FMR protein (FMRP) are associated with fragile X syndrome, which is one of the …

High-throughput screening to identify compounds that increase fragile X mental retardation protein expression in neural stem cells differentiated from fragile X …

D Kumari, M Swaroop, N Southall… - Stem cells …, 2015 - academic.oup.com
Fragile X syndrome (FXS), the most common form of inherited cognitive disability, is caused
by a deficiency of the fragile X mental retardation protein (FMRP). In most patients, the …

The fragile X protein and genome function

TC Dockendorff, M Labrador - Molecular neurobiology, 2019 - Springer
The fragile X syndrome (FXS) arises from loss of expression or function of the FMR1 gene
and is one of the most common monogenic forms of intellectual disability and autism. During …

RNA-binding proteins as molecular links between cancer and neurodegeneration

D Campos-Melo, CA Droppelmann, K Volkening… - Biogerontology, 2014 - Springer
For many years, epidemiological studies have suggested an association between cancer
and neurodegenerative disorders—two disease processes that seemingly have little in …