Lukasz J Sznajder

Lukasz J Sznajder,

Research Assistant Professor

Department: Molecular Genetics & Microbiology
Business Phone: (352) 273-8183
Business Email: ljsznajder@ufl.edu

Research Profile

Open Researcher and Contributor ID (ORCID)

Publications

2023
Autistic traits in myotonic dystrophy type 1 due to MBNL inhibition and RNA mis-splicing.
Research square. [DOI] 10.21203/rs.3.rs-3221704/v1. [PMID] 37645891.
2023
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.
Brain : a journal of neurology. 146(10):4217-4232 [DOI] 10.1093/brain/awad148. [PMID] 37143315.
2023
Modulatory role of RNA helicases in MBNL-dependent alternative splicing regulation.
Cellular and molecular life sciences : CMLS. 80(11) [DOI] 10.1007/s00018-023-04927-0. [PMID] 37882878.
2021
The sustained expression of Cas9 targeting toxic RNAs reverses disease phenotypes in mouse models of myotonic dystrophy type 1.
Nature biomedical engineering. 5(2):157-168 [DOI] 10.1038/s41551-020-00607-7. [PMID] 32929188.
2020
Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood.
Nature communications. 11(1) [DOI] 10.1038/s41467-020-15962-x. [PMID] 32332745.
2019
Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy.
Genes & development. 33(23-24):1635-1640 [DOI] 10.1101/gad.328963.119. [PMID] 31624084.
2019
Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy.
International journal of molecular sciences. 20(13) [DOI] 10.3390/ijms20133365. [PMID] 31323950.
2018
Intron retention induced by microsatellite expansions as a disease biomarker.
Proceedings of the National Academy of Sciences of the United States of America. 115(16):4234-4239 [DOI] 10.1073/pnas.1716617115. [PMID] 29610297.
2018
MBNL splicing activity depends on RNA binding site structural context.
Nucleic acids research. 46(17):9119-9133 [DOI] 10.1093/nar/gky565. [PMID] 29955876.
2018
Myotonic Dystrophy and Developmental Regulation of RNA Processing.
Comprehensive Physiology. 8(2):509-553 [DOI] 10.1002/cphy.c170002. [PMID] 29687899.
2017
Autoregulation of MBNL1 function by exon 1 exclusion from MBNL1 transcript.
Nucleic acids research. 45(4):1760-1775 [DOI] 10.1093/nar/gkw1158. [PMID] 27903900.
2017
Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy.
Genes & development. 31(11):1122-1133 [DOI] 10.1101/gad.300590.117. [PMID] 28698297.
2017
Hybrid splicing minigene and antisense oligonucleotides as efficient tools to determine functional protein/RNA interactions.
Scientific reports. 7(1) [DOI] 10.1038/s41598-017-17816-x. [PMID] 29242583.
2016
Mechanistic determinants of MBNL activity.
Nucleic acids research. 44(21):10326-10342 [PMID] 27733504.
2015
Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy.
Nucleic acids research. 43(6):3318-31 [DOI] 10.1093/nar/gkv163. [PMID] 25753670.
2012
Chemical correction of pre-mRNA splicing defects associated with sequestration of muscleblind-like 1 protein by expanded r(CAG)-containing transcripts.
ACS chemical biology. 7(3):496-505 [DOI] 10.1021/cb200413a. [PMID] 22252896.
2011
Northern blotting analysis of microRNAs, their precursors and RNA interference triggers.
BMC molecular biology. 12 [DOI] 10.1186/1471-2199-12-14. [PMID] 21481235.

Grants

Feb 2018 – Jan 2021
Pre-mRNA Misprocessing in Myotonic Dystrophy and Amyotrophic Lateral Sclerosis
Role: Principal Investigator
Funding: MUSCULAR DYSTROPHY ASSO

Contact Details

Phones:
Business:
(352) 273-8183
Emails:
Business:
ljsznajder@ufl.edu
Addresses:
Business Mailing:
PO BOX 103610
GAINESVILLE FL 326100001
Business Street:
2033 MOWRY RD
GAINESVILLE FL 32610