RNA toxicity and foci formation in microsatellite expansion diseases
N Zhang, T Ashizawa - Current opinion in genetics & development, 2017 - Elsevier
Highlights•RNA foci can form in both coding and non-coding microsatellite expansion
diseases.•RNA foci are dynamic structures in both the nucleus and the cytoplasm.•RNA …
diseases.•RNA foci are dynamic structures in both the nucleus and the cytoplasm.•RNA …
Regulation of DNA damage response by RNA/DNA-binding proteins: Implications for neurological disorders and aging
M Kodavati, VHM Rao, VE Provasek… - Ageing Research Reviews, 2024 - Elsevier
RNA-binding proteins (RBPs) are evolutionarily conserved across most forms of life, with an
estimated 1,500 RBPs in humans. Traditionally associated with post-transcriptional gene …
estimated 1,500 RBPs in humans. Traditionally associated with post-transcriptional gene …
CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins
SE Wright, CM Rodriguez, J Monroe, J Xing… - Nucleic acids …, 2022 - academic.oup.com
CGG repeat expansions in the FMR1 5'UTR cause the neurodegenerative disease Fragile X-
associated tremor/ataxia syndrome (FXTAS). These repeats form stable RNA secondary …
associated tremor/ataxia syndrome (FXTAS). These repeats form stable RNA secondary …
SFPQ and Tau: critical factors contributing to rapid progression of Alzheimer's disease
Dysfunctional RNA-binding proteins (RBPs) have been implicated in several
neurodegenerative disorders. Recently, this paradigm of RBPs has been extended to …
neurodegenerative disorders. Recently, this paradigm of RBPs has been extended to …
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome
Fragile X-associated tremor ataxia syndrome (FXTAS) is a neurodegenerative disorder
caused by a CGG trinucleotide repeat expansion in the 5′ UTR of the Fragile X gene …
caused by a CGG trinucleotide repeat expansion in the 5′ UTR of the Fragile X gene …
Epigenetics of fragile X syndrome and fragile X‐related disorders
The fragile X mental retardation 1 gene (FMR 1)‐related disorder fragile X syndrome (FXS)
is the most common heritable form of cognitive impairment and the second most common …
is the most common heritable form of cognitive impairment and the second most common …
Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological disorder that affects
premutation carriers with 55-200 CGG-expansion repeats (preCGG) in FMR1, presenting …
premutation carriers with 55-200 CGG-expansion repeats (preCGG) in FMR1, presenting …
Altered redox mitochondrial biology in the neurodegenerative disorder fragile X-tremor/ataxia syndrome: use of antioxidants in precision medicine
G Song, E Napoli, S Wong, R Hagerman, S Liu… - Molecular …, 2016 - Springer
A 55–200 expansion of the CGG nucleotide repeat in the 5′-UTR of the fragile X mental
retardation 1 gene (FMR1) is the hallmark of the triplet nucleotide disease known as the …
retardation 1 gene (FMR1) is the hallmark of the triplet nucleotide disease known as the …
Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families
BACKGROUND AND OBJECTIVES: Given the nature of FMR1 gene expansions, most
biological mothers, and often multiple other family members of children with fragile X …
biological mothers, and often multiple other family members of children with fragile X …
Impaired mitochondrial function and dynamics in the pathogenesis of FXTAS
MI Alvarez-Mora, L Rodriguez-Revenga… - Molecular …, 2017 - Springer
Mitochondrial involvement plays an important role in neurodegenerative diseases. At least
one-third of adult carriers of a FMR1 premutation (55-200 CGG repeats) are at risk of …
one-third of adult carriers of a FMR1 premutation (55-200 CGG repeats) are at risk of …