1. Deciphering the molecular causes and consequences of circular RNAs elevated expression levels in myotonic dystrophy type 1(DM1)/OPUS

Leader:   Arvind Srinivasan, MsC, PhD student 
Related publications:

• The formation of circular RNAs. Srinivasan A. and Wojciechowska M.; Book: Circular RNAs: Biogenesis and Functions; Springer Nature, 2024.
   
  
• Global Increase in Circular RNA Levels in Myotonic Dystrophy. Czubak K, Taylor K, Piasecka A, Sobczak K, Kozlowska K, Philips A, Sedehizadeh S, Brook JD, Wojciechowska M, Kozlowski P. Frontiers in Genetics. 2019 Jul 18;10:649. doi: 10.3389/fgene.2019.00649.
  
  
• An Overview of Circular RNAs and Their Implications in Myotonic Dystrophy. Czubak K, Sedehizadeh S, Kozlowski P, Wojciechowska M. Int J Mol Sci. 2019 Sep 6;20(18):4385. doi: 10.3390/ijms20184385.
  
  
• Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients. Sedehizadeh S, Wojciechowska M, Ketley A, Brook JD, Maddison P. Journal of Neurology. 2022 May;269(5):2784-2787. doi: 10.1007/s00415-021-10917-8
  
  
• Regulation of Toxic RNA Foci and Mutant DMPK Transcripts: Role of MBNL Proteins and RNA Decay Pathways. Xiaomeng Xing, Robert Markus, Tushar Ghosh, Sarah Buxton, Daniel J. Nieves, Marzena Wojciechowska, J. David Brook. bioRxiv preprint doi: https://doi.org/10.1101/2023.09.28.559487.
  

2. Cell-based high-throughput screening for small-molecule compounds diminishing molecular markers of pathogenesis in myotonic dystrophy type 2 (DM2)/OPUS  

Leader:  Revathi Gurunathan, PhD, Postdoctoral fellow 
Related publications:

• CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model. Ketley A, Wojciechowska M, Ghidelli-Disse S, Bamborough P, Ghosh TK, Morato ML, Sedehizadeh S, Malik NA, Tang Z, Powalowska P, Tanner M, Billeter-Clark R, Trueman RC, Geiszler PC, Agostini A, Othman O, Bösche M, Bantscheff M, Rüdiger M, Mossakowska DE, Drewry DH, Zuercher WJ, Thornton CA, Drewes G, Uings I, Hayes CJ, Brook JD. Science Translational Medicine. 2020 Apr 29;12(541):eaaz2415. doi: 10.1126/scitranslmed.aaz2415.
  
  
• Small Molecules Which Improve Pathogenesis of Myotonic Dystrophy Type 1. López-Morató M, Brook JD, Wojciechowska M. Frontiers in Neurology, 2018 May 18;9:349. doi: 10.3389/fneur.2018.00349.

3. Non-canonical pre-mRNA splicing participates in the editing of CNBP mutant allele in myotonic dystrophy type 2 (DM2)/PRELUDIUM BIS 

Leader: Emilia Mroczko, MsC, PhD student
Related publications: 

• Differential fates of introns in gene expression due to global alternative splicing. Kumari A, Sedehizadeh S, Brook JD, Kozlowski P, Wojciechowska M. Human Genetics, 2022 Jan;141(1):31-47. doi: 10.1007/s00439-021-02409-6.