Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes.
Sznajder ŁJ, Khan M, Ciesiołka A, Tadross M, Nutter CA, Taylor K, Pearson CE, Lewis MH, Hines RM, Swanson MS, Sobczak K, Yuen RKC.
Nat Neurosci. 2025 Jun;28(6):1199-1212. doi: 10.1038/s41593-025-01943-0. PubMed PMID: 40259070; PubMed Central PMCID: PMC12148930.
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C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.
Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, McKeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE.
NAR Mol Med. 2024 Oct;1(4):ugae019. doi: 10.1093/narmme/ugae019. PubMed PMID: 39669124; PubMed Central PMCID: PMC11632612.
MBNL splicing factors regulate the microtranscriptome of skeletal muscles.
Piasecka A, Szcześniak MW, Sekrecki M, Kajdasz A, Sznajder ŁJ, Baud A, Sobczak K.
Nucleic Acids Res. 2024 Oct 28;52(19):12055-12073. doi: 10.1093/nar/gkae774. PubMed PMID: 39258536; PubMed Central PMCID: PMC11514471.
Modulatory role of RNA helicases in MBNL-dependent alternative splicing regulation.
Taylor K, Piasecka A, Kajdasz A, Brzęk A, Polay Espinoza M, Bourgeois CF, Jankowski A, Borowiak M, Raczyńska KD, Sznajder ŁJ, Sobczak K.
Cell Mol Life Sci. 2023 Oct 26;80(11):335. doi: 10.1007/s00018-023-04927-0. PubMed PMID: 37882878; PubMed Central PMCID: PMC10602967.
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.
Nutter CA, Kidd BM, Carter HA, Hamel JI, Mackie PM, Kumbkarni N, Davenport ML, Tuyn DM, Gopinath A, Creigh PD, Sznajder ŁJ, Wang ET, Ranum LPW, Khoshbouei H, Day JW, Sampson JB, Prokop S, Swanson MS.
Brain. 2023 Oct 3;146(10):4217-4232. doi: 10.1093/brain/awad148. PubMed PMID: 37143315; PubMed Central PMCID: PMC10545633.
The sustained expression of Cas9 targeting toxic RNAs reverses disease phenotypes in mouse models of myotonic dystrophy type 1.
Batra R, Nelles DA, Roth DM, Krach F, Nutter CA, Tadokoro T, Thomas JD, Sznajder ŁJ, Blue SM, Gutierrez HL, Liu P, Aigner S, Platoshyn O, Miyanohara A, Marsala M, Swanson MS, Yeo GW.
Nat Biomed Eng. 2021 Feb;5(2):157-168. doi: 10.1038/s41551-020-00607-7. PubMed PMID: 32929188; PubMed Central PMCID: PMC8241012.
Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood.
Sznajder ŁJ, Scotti MM, Shin J, Taylor K, Ivankovic F, Nutter CA, Aslam FN, Subramony SH, Ranum LPW, Swanson MS.
Nat Commun. 2020 Apr 24;11(1):2022. doi: 10.1038/s41467-020-15962-x. PubMed PMID: 32332745; PubMed Central PMCID: PMC7181699.
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Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy.
Nutter CA, Bubenik JL, Oliveira R, Ivankovic F, Sznajder ŁJ, Kidd BM, Pinto BS, Otero BA, Carter HA, Vitriol EA, Wang ET, Swanson MS.
Genes Dev. 2019 Dec 1;33(23-24):1635-1640. doi: 10.1101/gad.328963.119. PubMed PMID: 31624084; PubMed Central PMCID: PMC6942047.
Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy.
Sznajder ŁJ, Swanson MS.
Int J Mol Sci. 2019 Jul 9;20(13). doi: 10.3390/ijms20133365. Review. PubMed PMID: 31323950; PubMed Central PMCID: PMC6651174.
MBNL splicing activity depends on RNA binding site structural context.
Taylor K, Sznajder ŁJ, Cywoniuk P, Thomas JD, Swanson MS, Sobczak K.
Nucleic Acids Res. 2018 Sep 28;46(17):9119-9133. doi: 10.1093/nar/gky565. PubMed PMID: 29955876; PubMed Central PMCID: PMC6158504.
Intron retention induced by microsatellite expansions as a disease biomarker.
Sznajder ŁJ, Thomas JD, Carrell EM, Reid T, McFarland KN, Cleary JD, Oliveira R, Nutter CA, Bhatt K, Sobczak K, Ashizawa T, Thornton CA, Ranum LPW, Swanson MS.
Proc Natl Acad Sci U S A. 2018 Apr 17;115(16):4234-4239. doi: 10.1073/pnas.1716617115. PubMed PMID: 29610297; PubMed Central PMCID: PMC5910826.
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Myotonic Dystrophy and Developmental Regulation of RNA Processing.
Thomas JD, Oliveira R, Sznajder ŁJ, Swanson MS.
Compr Physiol. 2018 Mar 25;8(2):509-553. doi: 10.1002/cphy.c170002. Review. PubMed PMID: 29687899; PubMed Central PMCID: PMC11323716.
Hybrid splicing minigene and antisense oligonucleotides as efficient tools to determine functional protein/RNA interactions.
Cywoniuk P, Taylor K, Sznajder ŁJ, Sobczak K.
Sci Rep. 2017 Dec 14;7(1):17587. doi: 10.1038/s41598-017-17816-x. PubMed PMID: 29242583; PubMed Central PMCID: PMC5730568.
Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy.
Thomas JD, Sznajder ŁJ, Bardhi O, Aslam FN, Anastasiadis ZP, Scotti MM, Nishino I, Nakamori M, Wang ET, Swanson MS.
Genes Dev. 2017 Jun 1;31(11):1122-1133. doi: 10.1101/gad.300590.117. PubMed PMID: 28698297; PubMed Central PMCID: PMC5538435.
Autoregulation of MBNL1 function by exon 1 exclusion from MBNL1 transcript.
Konieczny P, Stepniak-Konieczna E, Taylor K, Sznajder ŁJ, Sobczak K.
Nucleic Acids Res. 2017 Feb 28;45(4):1760-1775. doi: 10.1093/nar/gkw1158. PubMed PMID: 27903900; PubMed Central PMCID: PMC5389549.
Mechanistic determinants of MBNL activity.
Sznajder ŁJ, Michalak M, Taylor K, Cywoniuk P, Kabza M, Wojtkowiak-Szlachcic A, Matłoka M, Konieczny P, Sobczak K.
Nucleic Acids Res. 2016 Dec 1;44(21):10326-10342. doi: 10.1093/nar/gkw915. PubMed PMID: 27733504; PubMed Central PMCID: PMC5137450.
Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy.
Wojtkowiak-Szlachcic A, Taylor K, Stepniak-Konieczna E, Sznajder ŁJ, Mykowska A, Sroka J, Thornton CA, Sobczak K.
Nucleic Acids Res. 2015 Mar 31;43(6):3318-31. doi: 10.1093/nar/gkv163. PubMed PMID: 25753670; PubMed Central PMCID: PMC4381072.
Chemical correction of pre-mRNA splicing defects associated with sequestration of muscleblind-like 1 protein by expanded r(CAG)-containing transcripts.
Kumar A, Parkesh R, Sznajder ŁJ, Childs-Disney JL, Sobczak K, Disney MD.
ACS Chem Biol. 2012 Mar 16;7(3):496-505. doi: 10.1021/cb200413a. PubMed PMID: 22252896; PubMed Central PMCID: PMC3306454.
Northern blotting analysis of microRNAs, their precursors and RNA interference triggers.
Koscianska E, Starega-Roslan J, Sznajder ŁJ, Olejniczak M, Galka-Marciniak P, Krzyzosiak WJ.
BMC Mol Biol. 2011 Apr 11;12:14. doi: 10.1186/1471-2199-12-14. PubMed PMID: 21481235; PubMed Central PMCID: PMC3080303.
