Trinucleotide CGG repeat diseases: an expanding field of polyglycine proteins?
M Boivin, N Charlet-Berguerand - Frontiers in Genetics, 2022 - frontiersin.org
Microsatellites are repeated DNA sequences of 3–6 nucleotides highly variable in length
and sequence and that have important roles in genomes regulation and evolution. However …
and sequence and that have important roles in genomes regulation and evolution. However …
(Dys)function Follows Form: Nucleic Acid Structure, Repeat Expansion, and Disease Pathology in FMR1 Disorders
X Zhao, K Usdin - International Journal of Molecular Sciences, 2021 - mdpi.com
Fragile X-related disorders (FXDs), also known as FMR1 disorders, are examples of repeat
expansion diseases (REDs), clinical conditions that arise from an increase in the number of …
expansion diseases (REDs), clinical conditions that arise from an increase in the number of …
Human oncoprotein 5MP suppresses general and repeat-associated non-AUG translation via eIF3 by a common mechanism
Summary eIF5-mimic protein (5MP) is a translational regulatory protein that binds the small
ribosomal subunit and modulates its activity. 5MP is proposed to reprogram non-AUG …
ribosomal subunit and modulates its activity. 5MP is proposed to reprogram non-AUG …
FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report
M Toko, T Ohshita, T Kurashige, H Morino, K Kume… - BMC neurology, 2021 - Springer
Background Both fragile X-associated tremor/ataxia syndrome (FXTAS) and late-onset
neuronal intranuclear inclusion disease (NIID) show CGG/GGC trinucleotide repeat …
neuronal intranuclear inclusion disease (NIID) show CGG/GGC trinucleotide repeat …
Partners in crime: Proteins implicated in RNA repeat expansion diseases
A Baud, M Derbis, K Tutak… - Wiley Interdisciplinary …, 2022 - Wiley Online Library
Short tandem repeats are repetitive nucleotide sequences robustly distributed in the human
genome. Their expansion underlies the pathogenesis of multiple neurological disorders …
genome. Their expansion underlies the pathogenesis of multiple neurological disorders …
Molecular pathogenesis and peripheral monitoring of adult fragile X-associated syndromes
LM Valor, JC Morales, I Hervás-Corpión… - International Journal of …, 2021 - mdpi.com
Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and,
in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5' …
in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5' …
[PDF][PDF] In vitro and in vivo models to identify molecular pathways in Fragile X-associated Tremor and Ataxia Syndrome.
SN Haify, TB Orfila, RK Hukema, G Gaetano - … Approaches Towards Therapeutic … - core.ac.uk
Fragile X-associated tremor and ataxia syndrome (FXTAS) is a late-onset
neurodegenerative monogenetic disorder caused by a 55–200 CGG-repeat expansion …
neurodegenerative monogenetic disorder caused by a 55–200 CGG-repeat expansion …