Fragile X-associated neuropsychiatric disorders (FXAND)
RJ Hagerman, D Protic, A Rajaratnam… - Frontiers in …, 2018 - frontiersin.org
Fragile X syndrome (FXS) is caused by the full mutation (> 200 CGG repeats) in the Fragile
X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual …
X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual …
Modeling Neurodegenerative Disorders in Drosophila melanogaster
Drosophila melanogaster provides a powerful genetic model system in which to investigate
the molecular mechanisms underlying neurodegenerative diseases. In this review, we …
the molecular mechanisms underlying neurodegenerative diseases. In this review, we …
RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response
Repeat-associated non-AUG (RAN) translation allows for unconventional initiation at
disease-causing repeat expansions. As RAN translation contributes to pathogenesis in …
disease-causing repeat expansions. As RAN translation contributes to pathogenesis in …
CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts
Expansion of G4C2 repeats in the C9ORF72 gene is the most prevalent inherited form of
amyotrophic lateral sclerosis and frontotemporal dementia. Expanded transcripts undergo …
amyotrophic lateral sclerosis and frontotemporal dementia. Expanded transcripts undergo …
Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism
As expansions of CGG short tandem repeats (STRs) are established as the genetic etiology
of many neurodevelopmental disorders, we aimed to elucidate the inheritance patterns and …
of many neurodevelopmental disorders, we aimed to elucidate the inheritance patterns and …
CGG repeat-associated non-AUG translation utilizes a cap-dependent scanning mechanism of initiation to produce toxic proteins
Repeat-associated non-AUG (RAN) translation produces toxic polypeptides from nucleotide
repeat expansions in the absence of an AUG start codon and contributes to …
repeat expansions in the absence of an AUG start codon and contributes to …
CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins
SE Wright, CM Rodriguez, J Monroe, J **ng… - 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 …
RNA-binding proteins in neurodegeneration: mechanisms in aggregate
Neurodegeneration is a leading cause of death in the developed world and a natural, albeit
unfortunate, consequence of longer-lived populations. Despite great demand for therapeutic …
unfortunate, consequence of longer-lived populations. Despite great demand for therapeutic …
Native functions of short tandem repeats
SE Wright, PK Todd - Elife, 2023 - elifesciences.org
Over a third of the human genome is comprised of repetitive sequences, including more than
a million short tandem repeats (STRs). While studies of the pathologic consequences of …
a million short tandem repeats (STRs). While studies of the pathologic consequences of …
New pathologic mechanisms in nucleotide repeat expansion disorders
Tandem microsatellite repeats are common throughout the human genome and intrinsically
unstable, exhibiting expansions and contractions both somatically and across generations …
unstable, exhibiting expansions and contractions both somatically and across generations …