[HTML][HTML] Circles reshaping the RNA world: from waste to treasure
J Liu, T Liu, X Wang, A He - Molecular cancer, 2017 - Springer
A new type of RNAs was identified from genes traditionally thought to express messenger or
linear ncRNA (noncoding RNA) only. They were subsequently named as circRNAs (circular …
linear ncRNA (noncoding RNA) only. They were subsequently named as circRNAs (circular …
Myotonic dystrophy
CA Thornton - Neurologic clinics, 2014 - neurologic.theclinics.com
A population-based screen to determine the genetic frequency of myotonic dystrophy (DM)
is technically feasible but has not yet been performed on a large scale. The most ambitious …
is technically feasible but has not yet been performed on a large scale. The most ambitious …
[HTML][HTML] Elimination of toxic microsatellite repeat expansion RNA by RNA-targeting Cas9
Microsatellite repeat expansions in DNA produce pathogenic RNA species that cause
dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2) …
dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2) …
[HTML][HTML] Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease
Inhibition of muscleblind-like (MBNL) activity due to sequestration by microsatellite
expansion RNAs is a major pathogenic event in the RNA-mediated disease myotonic …
expansion RNAs is a major pathogenic event in the RNA-mediated disease myotonic …
[HTML][HTML] Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy
The RNA-mediated disease model for myotonic dystrophy (DM) proposes that microsatellite
C (C) TG expansions express toxic RNAs that disrupt splicing regulation by altering MBNL1 …
C (C) TG expansions express toxic RNAs that disrupt splicing regulation by altering MBNL1 …
[HTML][HTML] An overview of alternative splicing defects implicated in myotonic dystrophy type I
A López-Martínez, P Soblechero-Martín… - Genes, 2020 - mdpi.com
Myotonic dystrophy type I (DM1) is the most common form of adult muscular dystrophy,
caused by expansion of a CTG triplet repeat in the 3′ untranslated region (3′ UTR) of the …
caused by expansion of a CTG triplet repeat in the 3′ untranslated region (3′ UTR) of the …
MBNL proteins and their target RNAs, interaction and splicing regulation
P Konieczny, E Stepniak-Konieczna… - Nucleic acids …, 2014 - academic.oup.com
Muscleblind-like (MBNL) proteins are key regulators of precursor and mature mRNA
metabolism in mammals. Based on published and novel data, we explore models of tissue …
metabolism in mammals. Based on published and novel data, we explore models of tissue …
[HTML][HTML] Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
F Freyermuth, F Rau, Y Kokunai, T Linke… - Nature …, 2016 - nature.com
Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded
CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing …
CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing …
Roles for RNA-binding proteins in development and disease
AE Brinegar, TA Cooper - Brain research, 2016 - Elsevier
RNA-binding protein activities are highly regulated through protein levels, intracellular
localization, and post-translation modifications. During development, mRNA processing of …
localization, and post-translation modifications. During development, mRNA processing of …
[HTML][HTML] RAN translation regulated by muscleblind proteins in myotonic dystrophy type 2
Several microsatellite-expansion diseases are characterized by the accumulation of RNA
foci and RAN proteins, raising the possibility of a mechanistic connection. We explored this …
foci and RAN proteins, raising the possibility of a mechanistic connection. We explored this …