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 …

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 …

[HTML][HTML] RNA Bind-n-Seq: quantitative assessment of the sequence and structural binding specificity of RNA binding proteins

N Lambert, A Robertson, M Jangi, S McGeary… - Molecular cell, 2014 - cell.com
Specific protein-RNA interactions guide posttranscriptional gene regulation. Here, we
describe RNA Bind-n-Seq (RBNS), a method that comprehensively characterizes sequence …

CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay

A Masuda, HS Andersen, TK Doktor, T Okamoto… - Scientific reports, 2012 - nature.com
CUGBP1 and MBNL1 are developmentally regulated RNA-binding proteins that are causally
associated with myotonic dystrophy type 1. We globally determined the in vivo RNA-binding …

Cys2His2 zinc finger protein family: classification, functions, and major members

SV Razin, VV Borunova, OG Maksimenko… - Biochemistry …, 2012 - Springer
Abstract Cys2His2 (C2H2)-type zinc fingers are widespread DNA binding motifs in
eukaryotic transcription factors. Zinc fingers are short protein motifs composed of two or …

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 …

Molecular mechanisms in DM1—a focus on foci

OJ Pettersson, L Aagaard, TG Jensen… - Nucleic acids …, 2015 - academic.oup.com
Myotonic dystrophy type 1 is caused by abnormal expansion of a CTG-trinucleotide repeat in
the gene encoding Dystrophia Myotonica Protein Kinase (DMPK), which in turn leads to …

Structural characteristics of simple RNA repeats associated with disease and their deleterious protein interactions

A Ciesiolka, M Jazurek, K Drazkowska… - Frontiers in cellular …, 2017 - frontiersin.org
Short Tandem Repeats (STRs) are frequent entities in many transcripts, however, in some
cases, pathological events occur when a critical repeat length is reached. This phenomenon …

RNA–protein interactions in vivo: global gets specific

ML Änkö, KM Neugebauer - Trends in biochemical sciences, 2012 - cell.com
RNA-binding proteins (RBPs) impact every process in the cell; they act as splicing and
polyadenylation factors, transport and localization factors, stabilizers and destabilizers …

New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats

FX Laurent, A Sureau, AF Klein, F Trouslard… - Nucleic acids …, 2012 - academic.oup.com
Abstract Myotonic Dystrophy type I (DM1) is caused by an abnormal expansion of CTG
triplets in the 3′ UTR of the dystrophia myotonica protein kinase (DMPK) gene, leading to …