Lukasz J Sznajder
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Explore the profile of Lukasz J Sznajder including associated specialties, affiliations and a list of published articles.
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19
Citations
488
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Recent Articles
1.
Mirceta M, Schmidt M, Shum N, Prasolava T, Meikle B, Lanni S, et al.
NAR Mol Med
. 2024 Dec;
1(4):ugae019.
PMID: 39669124
The hyper-unstable Chr9p21 locus, harbouring the interferon gene cluster, oncogenes and , is linked to multiple diseases. (GGGGCC)n expansions (Exp) are associated with incompletely penetrant amyotrophic lateral sclerosis, frontotemporal dementia...
2.
Mirceta M, Schmidt M, Shum N, Prasolava T, Meikle B, Lanni S, et al.
bioRxiv
. 2024 Nov;
PMID: 39569145
The hyper-unstable Chr9p21 locus, harbouring the interferon gene cluster, oncogenes and is linked to multiple diseases. (GGGGCC)n expansions ( Exp) are associated with incompletely penetrant amyotrophic lateral sclerosis, frontotemporal dementia...
3.
Piasecka A, Szczesniak M, Sekrecki M, Kajdasz A, Sznajder L, Baud A, et al.
Nucleic Acids Res
. 2024 Sep;
52(19):12055-12073.
PMID: 39258536
Muscleblind like splicing regulators (MBNLs) govern various RNA-processing steps, including alternative splicing, polyadenylation, RNA stability and mRNA intracellular localization. In myotonic dystrophy type 1 (DM1), the most common muscular dystrophy...
4.
Taylor K, Piasecka A, Kajdasz A, Brzek A, Polay Espinoza M, Bourgeois C, et al.
Cell Mol Life Sci
. 2023 Oct;
80(11):335.
PMID: 37882878
Muscleblind-like splicing regulators (MBNLs) activate or repress the inclusion of alternative splicing (AS) events, enabling the developmental transition of fetal mRNA splicing isoforms to their adult forms. Herein, we sought...
5.
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1
Nutter C, Kidd B, Carter H, Hamel J, Mackie P, Kumbkarni N, et al.
Brain
. 2023 May;
146(10):4217-4232.
PMID: 37143315
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 are transcribed and produce toxic...
6.
Batra R, Nelles D, Roth D, Krach F, Nutter C, Tadokoro T, et al.
Nat Biomed Eng
. 2020 Sep;
5(2):157-168.
PMID: 32929188
Myotonic dystrophy type I (DM1) is a multisystemic autosomal-dominant inherited human disorder that is caused by CTG microsatellite repeat expansions (MREs) in the 3' untranslated region of DMPK. Toxic RNAs...
7.
Sznajder L, Scotti M, Shin J, Taylor K, Ivankovic F, Nutter C, et al.
Nat Commun
. 2020 Apr;
11(1):2022.
PMID: 32332745
The thymus is a primary lymphoid organ that plays an essential role in T lymphocyte maturation and selection during development of one arm of the mammalian adaptive immune response. Although...
8.
Nutter C, Bubenik J, Oliveira R, Ivankovic F, Sznajder L, Kidd B, et al.
Genes Dev
. 2019 Oct;
33(23-24):1635-1640.
PMID: 31624084
Short tandem repeats (STRs) are prone to expansion mutations that cause multiple hereditary neurological and neuromuscular diseases. To study pathomechanisms using mouse models that recapitulate the tissue specificity and developmental...
9.
Sznajder L, Swanson M
Int J Mol Sci
. 2019 Jul;
20(13).
PMID: 31323950
Short tandem repeat (STR) or microsatellite, expansions underlie more than 50 hereditary neurological, neuromuscular and other diseases, including myotonic dystrophy types 1 (DM1) and 2 (DM2). Current disease models for...
10.
Taylor K, Sznajder L, Cywoniuk P, Thomas J, Swanson M, Sobczak K
Nucleic Acids Res
. 2018 Jun;
46(17):9119-9133.
PMID: 29955876
Muscleblind-like (MBNL) proteins are conserved RNA-binding factors involved in alternative splicing (AS) regulation during development. While AS is controlled by distribution of MBNL paralogs and isoforms, the affinity of these...