[HTML][HTML] Molecular therapies for myotonic dystrophy type 1: from small drugs to gene editing
M Izzo, J Battistini, C Provenzano, F Martelli… - International journal of …, 2022 - mdpi.com
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy affecting many
different body tissues, predominantly skeletal and cardiac muscles and the central nervous …
different body tissues, predominantly skeletal and cardiac muscles and the central nervous …
[HTML][HTML] Application of antisense conjugates for the treatment of myotonic dystrophy type 1
J Stoodley, F Vallejo-Bedia, D Seone-Miraz… - International Journal of …, 2023 - mdpi.com
Myotonic dystrophy type 1 (DM1) is one of the most common muscular dystrophies and can
be potentially treated with antisense therapy decreasing mutant DMPK, targeting miRNAs or …
be potentially treated with antisense therapy decreasing mutant DMPK, targeting miRNAs or …
[HTML][HTML] Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1
TC Conte, G Duran-Bishop, Z Orfi, I Mokhtari… - Nature …, 2023 - nature.com
Muscle stem cells, the engine of muscle repair, are affected in myotonic dystrophy type 1
(DM1); however, the underlying molecular mechanism and the impact on the disease …
(DM1); however, the underlying molecular mechanism and the impact on the disease …
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial
CA Thornton, RT Moxley, K Eichinger… - The Lancet …, 2023 - thelancet.com
Background Myotonic dystrophy type 1 results from an RNA gain-of-function mutation, in
which DM1 protein kinase (DMPK) transcripts carrying expanded trinucleotide repeats exert …
which DM1 protein kinase (DMPK) transcripts carrying expanded trinucleotide repeats exert …
[HTML][HTML] Cardiac pathology in myotonic dystrophy type 1
MS Mahadevan, RS Yadava, M Mandal - International journal of …, 2021 - mdpi.com
Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy affecting adults and
children, is a multi-systemic disorder affecting skeletal, cardiac, and smooth muscles as well …
children, is a multi-systemic disorder affecting skeletal, cardiac, and smooth muscles as well …
Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy
Myotonic dystrophy (DM) is caused by expansions of C (C) TG repeats in the non-coding
regions of the DMPK and CNBP genes, and DM patients often suffer from sudden cardiac …
regions of the DMPK and CNBP genes, and DM patients often suffer from sudden cardiac …
[HTML][HTML] Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels
Myotonic dystrophy type 1 (DM1) is a genetic disorder that causes muscle weakness and
myotonia. In DM1 patients, cardiac electrical manifestations include conduction defects and …
myotonia. In DM1 patients, cardiac electrical manifestations include conduction defects and …
Alternative splicing mediates the compensatory upregulation of MBNL2 upon MBNL1 loss-of-function
L Nitschke, RC Hu, AN Miller, L Lucas… - Nucleic Acids …, 2023 - academic.oup.com
Loss of gene function can be compensated by paralogs with redundant functions. An
example of such compensation are the paralogs of the Muscleblind-Like (MBNL) family of …
example of such compensation are the paralogs of the Muscleblind-Like (MBNL) family of …
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1
CA Nutter, BM Kidd, HA Carter, JI Hamel, PM Mackie… - Brain, 2023 - academic.oup.com
Myotonic dystrophy type 1 is a dominantly inherited multisystemic disease caused by CTG
tandem repeat expansions in the DMPK 3′ untranslated region. These expanded repeats …
tandem repeat expansions in the DMPK 3′ untranslated region. These expanded repeats …
Rescue of Scn5a mis-splicing does not improve the structural and functional heart defects of a DM1 heart mouse model
L Nitschke, RC Hu, AN Miller… - Human Molecular …, 2024 - academic.oup.com
Abstract Myotonic Dystrophy Type 1 (DM1) is an autosomal dominant multisystemic disorder
for which cardiac features, including conduction delays and arrhythmias, are the second …
for which cardiac features, including conduction delays and arrhythmias, are the second …