Short tandem repeat expansions and RNA-mediated pathogenesis in myotonic dystrophy
ŁJ Sznajder, MS Swanson - International Journal of Molecular Sciences, 2019 - mdpi.com
Short tandem repeat (STR) or microsatellite, expansions underlie more than 50 hereditary
neurological, neuromuscular and other diseases, including myotonic dystrophy types 1 …
neurological, neuromuscular and other diseases, including myotonic dystrophy types 1 …
[HTML][HTML] Somatic mutations in neurodegeneration: An update
C Proukakis - Neurobiology of Disease, 2020 - Elsevier
Mosaicism, the presence of genomic differences between cells due to post-zygotic somatic
mutations, is widespread in the human body, including within the brain. A role for this in …
mutations, is widespread in the human body, including within the brain. A role for this in …
[HTML][HTML] Hexanucleotide repeat expansions in c9FTD/ALS and SCA36 confer selective patterns of neurodegeneration in vivo
AG 4 C 2 hexanucleotide repeat expansion in an intron of C9orf72 is the most common
cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). A …
cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). A …
Atypical structures of GAA/TTC trinucleotide repeats underlying Friedreich's ataxia: DNA triplexes and RNA/DNA hybrids
Expansion of the GAA/TTC repeats in the first intron of the FXN gene causes Friedreich's
ataxia. Non-canonical structures are linked to this expansion. DNA triplexes and R-loops are …
ataxia. Non-canonical structures are linked to this expansion. DNA triplexes and R-loops are …
NMR structure of a G-quadruplex formed by four d(G4C2) repeats: insights into structural polymorphism
J Brčić, J Plavec - Nucleic Acids Research, 2018 - academic.oup.com
Most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD), is a largely increased number of d (G4C2) n•(G2C4) n repeats located in …
dementia (FTD), is a largely increased number of d (G4C2) n•(G2C4) n repeats located in …
Novel eGZ-motif formed by regularly extruded guanine bases in a left-handed Z-DNA helix as a major motif behind CGG trinucleotide repeats
The expansion of d (CGG) trinucleotide repeats (TRs) lies behind several important
neurodegenerative diseases. Atypical DNA secondary structures have been shown to …
neurodegenerative diseases. Atypical DNA secondary structures have been shown to …
Structure and Dynamics of DNA and RNA Double Helices Formed by d (CTG), d (GTC), r (CUG), and r (GUC) Trinucleotide Repeats and Associated DNA–RNA …
Myotonic dystrophy type 1 is the most frequent form of muscular dystrophy in adults caused
by an abnormal expansion of the CTG trinucleotide. Both the expanded DNA and the …
by an abnormal expansion of the CTG trinucleotide. Both the expanded DNA and the …
G-quadruplexes in repeat expansion disorders
Y Teng, M Zhu, Z Qiu - International Journal of Molecular Sciences, 2023 - mdpi.com
The repeat expansions are the main genetic cause of various neurodegeneration diseases.
More than ten kinds of repeat sequences with different lengths, locations, and structures …
More than ten kinds of repeat sequences with different lengths, locations, and structures …
Repeat-associated RNA structure and aberrant splicing
MA Hale, NE Johnson, JA Berglund - Biochimica et Biophysica Acta (BBA) …, 2019 - Elsevier
Over 30 hereditary disorders attributed to the expansion of microsatellite repeats have been
identified. Despite variant nucleotide content, number of consecutive repeats, and different …
identified. Despite variant nucleotide content, number of consecutive repeats, and different …
Spinocerebellar ataxia 36: From mutations toward therapies
S Lopez, F He - Frontiers in Genetics, 2022 - frontiersin.org
Spinocerebellar ataxia 36 (SCA36) is a type of repeat expansion-related neurodegenerative
disorder identified a decade ago. Like other SCAs, the symptoms of SCA36 include the loss …
disorder identified a decade ago. Like other SCAs, the symptoms of SCA36 include the loss …