The hallmarks of myotonic dystrophy type 1 muscle dysfunction
LL Ozimski, M Sabater‐Arcis, A Bargiela… - Biological …, 2021 - Wiley Online Library
ABSTRACT Myotonic dystrophy type 1 (DM1) is the most prevalent form of muscular
dystrophy in adults and yet there are currently no treatment options. Although this disease …
dystrophy in adults and yet there are currently no treatment options. Although this disease …
Alternative splicing as a biomarker and potential target for drug discovery
Alternative splicing is a key process of multi-exonic gene expression during pre-mRNA
maturation. In this process, particular exons of a gene will be included within or excluded …
maturation. In this process, particular exons of a gene will be included within or excluded …
Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis
Myotonic dystrophy type 1 (DM1) is a multisystem neuromuscular disease caused by a CTG
triplet expansion in the 3′‐untranslated region (3′‐UTR) of DMPK gene. This CTG array is …
triplet expansion in the 3′‐untranslated region (3′‐UTR) of DMPK gene. This CTG array is …
iPSC-derived cardiomyocytes from patients with myotonic dystrophy type 1 have abnormal ion channel functions and slower conduction velocities
Cardiac complications such as electrical abnormalities including conduction delays and
arrhythmias are the main cause of death in individuals with Myotonic Dystrophy type 1 …
arrhythmias are the main cause of death in individuals with Myotonic Dystrophy type 1 …
Mitochondrial apoptosis is induced by Alkoxy phenyl-1-propanone derivatives through PP2A-mediated dephosphorylation of Bad and Foxo3A in CLL
Abstract Protein phosphatase 2 A (PP2A) is a tumour suppressor whose strong inhibition
underlies the phosphorylation-dependent, anti-apoptotic mechanisms in Chronic …
underlies the phosphorylation-dependent, anti-apoptotic mechanisms in Chronic …
MBNL splicing activity depends on RNA binding site structural context
K Taylor, ŁJ Sznajder, P Cywoniuk… - Nucleic acids …, 2018 - academic.oup.com
Muscleblind-like (MBNL) proteins are conserved RNA-binding factors involved in alternative
splicing (AS) regulation during development. While AS is controlled by distribution of MBNL …
splicing (AS) regulation during development. While AS is controlled by distribution of MBNL …
Protein phosphorylation alterations in myotonic dystrophy type 1: a systematic review
Among the most common muscular dystrophies in adults is Myotonic Dystrophy type 1
(DM1), an autosomal dominant disorder characterized by myotonia, muscle wasting and …
(DM1), an autosomal dominant disorder characterized by myotonia, muscle wasting and …
Small molecules which improve pathogenesis of myotonic dystrophy type 1
M López-Morató, JD Brook… - Frontiers in neurology, 2018 - frontiersin.org
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults for which
there is currently no treatment. The pathogenesis of this autosomal dominant disorder is …
there is currently no treatment. The pathogenesis of this autosomal dominant disorder is …
Block or degrade? Balancing on-and off-target effects of antisense strategies against transcripts with expanded triplet repeats in DM1
N El Boujnouni, ML van der Bent, M Willemse… - … Therapy-Nucleic Acids, 2023 - cell.com
Antisense oligonucleotide (ASO) therapies for myotonic dystrophy type 1 (DM1) are based
on elimination of transcripts containing an expanded repeat or inhibition of sequestration of …
on elimination of transcripts containing an expanded repeat or inhibition of sequestration of …
Pluripotent stem cells in disease modeling and drug discovery for myotonic dystrophy type 1
N Bérenger-Currias, C Martinat, S Baghdoyan - Cells, 2023 - mdpi.com
Myotonic dystrophy type 1 (DM1) is a progressive multisystemic disease caused by the
expansion of a CTG repeat tract within the 3′ untranslated region (3′ UTR) of the …
expansion of a CTG repeat tract within the 3′ untranslated region (3′ UTR) of the …