References

Repetitive DNA sequence detection and its role in the human genome

10.1038/s42003-023-05322-y · 2023 · External reference

Repetitive elements may comprise over two-thirds of the human genome

10.1371/journal.pgen.1002384 · 2011 · External reference

Structure-forming repeats and their impact on genome stability

10.1016/j.gde.2020.10.006 · 2021 · External reference

Repeat expansion diseases

10.1016/b978-0-444-63233-3.00009-9 · 2018 · External reference

Initial sequencing and analysis of the human genome

10.1038/35057062 · 2001 · External reference

Epigenetic modifications in trinucleotide repeat diseases

10.1016/j.molmed.2013.07.007 · 2013 · External reference

Epigenetics in nucleotide repeat expansion disorders

10.1055/s-0031-1299786 · 2011 · External reference

Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy

10.1371/journal.pgen.1001340 · 2011 · External reference

Asymmetric inheritance of RNA toxicity in C. elegans expressing CTG repeats

10.1016/j.isci.2022.104246 · 2022 · External reference

Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets

10.1016/j.molcel.2007.01.031 · 2007 · External reference

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

10.1093/emboj/19.17.4439 · 2000 · External reference

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

10.1038/s41467-018-04370-x · 2018 · External reference

Non-ATG-initiated translation directed by microsatellite expansions

10.1073/pnas.1013343108 · 2011 · External reference

RAN translation regulated by muscleblind proteins in myotonic dystrophy type 2

10.1016/j.neuron.2017.08.039 · 2017 · External reference

Repeat-associated non-ATG translation in neurological diseases

10.1101/cshperspect.a033019 · 2018 · External reference

Proteostasis of huntingtin in health and disease

10.3390/ijms18071568 · 2017 · External reference

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

10.1038/nature06909 · 2008 · External reference

The length of uninterrupted CAG repeats in stem regions of repeat disease associated hairpins determines the amount of short CAG oligonucleotides that are toxic to cells through RNA interference

10.1038/s41419-022-05494-1 · 2022 · External reference

Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference

10.1093/nar/gkq1323 · 2011 · External reference

Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs

10.1093/nar/gkm601 · 2007 · External reference

Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats

10.1093/hmg/ddh056 · 2004 · External reference

Cellular toxicity of expanded RNA repeats: focus on RNA foci

10.1093/hmg/ddr299 · 2011 · External reference

HSA(LR) mice exhibit co-expression of proteostasis genes prior to development of muscle weakness

10.3390/ijms262110793 · 2025 · External reference

Small molecule screening identifies HSP90 as a modifier of RNA foci in myotonic dystrophy type 1

10.1080/10985549.2024.2408025 · 2025 · External reference

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3’ end of a transcript encoding a protein kinase family member

10.1016/0092-8674(92)90154-5 · 1992 · External reference

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

10.1038/355547a0 · 1992 · External reference

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

10.1126/science.1546326 · 1992 · External reference

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

10.1038/355545a0 · 1992 · External reference

Myotonic dystrophy mutation: an unstable CTG repeat in the 3’ untranslated region of the gene

10.1126/science.1546325 · 1992 · External reference

Short tandem repeat expansions and RNA-mediated pathogenesis in myotonic dystrophy

10.3390/ijms20133365 · 2019 · External reference

Unresolved reference

2001 · External reference

Myotonic dystrophy protein kinase (DMPK) prevents ROS-induced cell death by assembling a hexokinase II-src complex on the mitochondrial surface

10.1038/cddis.2013.385 · 2013 · External reference

HspB2/myotonic dystrophy protein kinase binding protein (MKBP) as a novel molecular chaperone: structural and functional aspects

10.1371/journal.pone.0029810 · 2012 · External reference

Myotonic dystrophy protein kinase is critical for nuclear envelope integrity

10.1074/jbc.m111.241455 · 2011 · External reference

Developmental insights into the pathology of and therapeutic strategies for DM1: back to the basics

10.1002/dvdy.24240 · 2015 · External reference

Myotonic dystrophy: diagnosis, management and new therapies

10.1097/wco.0000000000000128 · 2014 · External reference

The myotonic dystrophies: molecular, clinical, and therapeutic challenges

10.1016/s1474-4422(12)70204-1 · 2012 · External reference

On the wrong DNA track: molecular mechanisms of repeat-mediated genome instability

10.1074/jbc.rev119.007678 · 2020 · External reference

Trinucleotide repeat instability: genetic features and molecular mechanisms

10.1111/j.1750-3639.1997.tb00895.x · 1997 · External reference

Unstable DNA sequence in myotonic dystrophy

10.1016/0140-6736(92)90729-m · 1992 · External reference

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

10.1038/ng0893-398 · 1993 · External reference

Cardiac involvement in a large kindred with myotonic dystrophy. Quantitative assessment and relation to size of CTG repeat expansion

10.1001/jama.1995.03530100053034 · 1995 · External reference

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

10.1212/wnl.0000000000008056 · 2019 · External reference

The need for establishing a universal CTG sizing method in myotonic dystrophy type 1

10.3390/genes11070757 · 2020 · External reference

30 years of repeat expansion disorders: what have we learned and what are the remaining challenges?

10.1016/j.ajhg.2021.03.011 · 2021 · External reference

RNA phase transitions in repeat expansion disorders

10.1038/nature22386 · 2017 · External reference

DM1 repeat-expanded RNAs confer RNA toxicity as individual nuclear-retained RNAs

10.1016/j.celrep.2025.115582 · 2025 · External reference

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

10.1083/jcb.128.6.995 · 1995 · External reference

The Muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing

10.1111/j.1432-0436.2006.00060.x · 2006 · External reference

Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins

10.1093/hmg/ddu492 · 2015 · External reference

Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain

10.1371/journal.pone.0033218 · 2012 · External reference

Muscleblind proteins regulate alternative splicing

10.1038/sj.emboj.7600300 · 2004 · External reference

Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins

10.1016/j.cell.2012.06.041 · 2012 · External reference

Global insights into alternative polyadenylation regulation

10.1080/15476286.2015.1040974 · 2015 · External reference

RNA-dependent integrin alpha3 protein localization regulated by the muscleblind-like protein MLP1

10.1038/ncb1335 · 2005 · External reference

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

10.1038/srep00209 · 2012 · External reference

Myotonic dystrophy: candidate small molecule therapeutics

10.1016/j.drudis.2017.07.011 · 2017 · External reference

Unresolved reference

2025 · External reference

hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies

10.1002/mus.27216 · 2021 · External reference

Myotonic dystrophy type 1 presenting with ventilatory failure

10.1097/cnd.0b013e3181520095 · 2007 · External reference

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

10.1212/wnl.0000000000006948 · 2019 · External reference

Cerebral involvement in myotonic dystrophies

10.1002/mus.20800 · 2007 · External reference

Expanded CUG repeats trigger disease phenotype and expression changes through the RNAi machinery in C. elegans

10.1016/j.jmb.2019.03.003 · 2019 · External reference

Coenzyme Q improves mitochondrial and muscle dysfunction caused by CUG expanded repeats in Caenorhabditis elegans

10.1093/genetics/iyae208 · 2024 · External reference

Investigation of glucose metabolism by continuous glucose monitoring and validation of dipeptidyl peptidase 4 inhibitor use in patients with myotonic dystrophy type 1

10.3390/jcm13175252 · 2024 · External reference

Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: thematic review series: genetics of human lipid diseases

10.1194/jlr.r012120 · 2012 · External reference

Increased mitochondrial DNA deletions in the skeletal muscle of myotonic dystrophy

1992 · External reference

Myotonic dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin

10.18632/aging.103022 · 2020 · External reference

Ragged-red' fibres in myotonic dystrophy

10.1016/0022-510x(86)90110-3 · 1986 · External reference

Myotonic dystrophy types 1 and 2

10.1016/b978-0-08-045031-5.00015-3 · 2011 · External reference

Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1

10.1093/hmg/ddaf124 · 2025 · External reference

Serum insulin-like system alterations in patients with spinocerebellar ataxia type 3

10.1002/mds.23428 · 2011 · External reference

Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice

10.1093/hmg/ddn035 · 2008 · External reference

Impaired insulin sensitivity and secretion in normoglycemic patients with spinocerebellar ataxia type 1

10.1002/mds.23176 · 2010 · External reference

A cross-sectional study for glucose intolerance of myotonic dystrophy

10.1016/j.jns.2008.08.037 · 2009 · External reference

Mice with AS160/TBC1D4-Thr649Ala knockin mutation are glucose intolerant with reduced insulin sensitivity and altered GLUT4 trafficking

10.1016/j.cmet.2010.12.005 · 2011 · External reference

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

10.1038/ng704 · 2001 · External reference

Muscleblind-like 1 (Mbnl1) promotes insulin receptor exon 11 inclusion via binding to a downstream evolutionarily conserved intronic enhancer

10.1074/jbc.m109.095224 · 2010 · External reference

Transcriptome changes in DM1 patients' tissues are governed by the RNA interference pathway

10.3389/fmolb.2022.955753 · 2022 · External reference

High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2

10.1038/s41419-018-0769-5 · 2018 · External reference

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

10.1038/nsmb.2067 · 2011 · External reference

Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1

10.1016/j.nmd.2010.11.012 · 2011 · External reference

Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients

10.1093/hmg/dds478 · 2013 · External reference

RBFOX2 is critical for maintaining alternative polyadenylation patterns and mitochondrial health in rat myoblasts

10.1016/j.celrep.2021.109910 · 2021 · External reference

Rbfox-splicing factors maintain skeletal muscle mass by regulating calpain3 and proteostasis

10.1016/j.celrep.2018.06.017 · 2018 · External reference

Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans

10.1038/nsmb.2858 · 2014 · External reference

Nuclear MBL-1 modulates mitochondrial morphology through carnitine palmitoyltransferase in Caenorhabditis elegans with toxic trinucleotide repeats

10.1073/pnas.2514994123 · 2026 · External reference

Mitochondrial dysfunction in repeat expansion diseases

10.3390/antiox12081593 · 2023 · External reference

Potential involvement of ubiquinone in myotonic dystrophy pathophysiology: new diagnostic approaches for new rationale therapeutics

10.1007/s100720070014 · 2000 · External reference

Endogenous synthesis of coenzyme Q in eukaryotes

10.1016/j.mito.2007.03.007 · 2007 · External reference

Mitochondrial dysfunction in myotonic dystrophy type 1

10.1016/j.nmd.2017.10.007 · 2018 · External reference

Imbalanced oxidant and antioxidant ratio in myotonic dystrophy type 1

10.3109/10715762.2014.887847 · 2014 · External reference

Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2

10.1007/s00401-023-02673-y · 2024 · External reference

Coenzyme Q improves mitochondrial and muscle dysfunction caused by CUG expanded repeats in Caenorhabditis elegans

10.1093/genetics/iyae208 · 2025 · External reference

Mechanisms of RNA-induced toxicity in CAG repeat disorders

10.1038/cddis.2013.276 · 2013 · External reference

Huntingtin and its role in mechanisms of RNA-mediated toxicity

10.3390/toxins13070487 · 2021 · External reference

RNA toxicity in polyglutamine disorders: concepts, models, and progress of research

10.1007/s00109-013-1016-2 · 2013 · External reference