Cargando…

Autistic traits in myotonic dystrophy type 1 due to MBNL inhibition and RNA mis-splicing

Tandem repeat expansions are enriched in autism spectrum disorder, including CTG expansion in the DMPK gene that underlines myotonic muscular dystrophy type 1. Although the clinical connection of autism to myotonic dystrophy is corroborated, the molecular links remained unknown. Here, we show a mech...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sznajder, Lukasz, Khan, Mahreen, Tadross, Mariam, Ciesiołka, Adam, Nutter, Curtis, Taylor, Katarzyna, Pearson, Christopher, Sobczak, Krzysztof, Lewis, Mark, Swanson, Maurice, Yuen, Ryan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Journal Experts 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462192/ https://www.ncbi.nlm.nih.gov/pubmed/37645891 http://dx.doi.org/10.21203/rs.3.rs-3221704/v1

Ejemplares similares

Sustainable recovery of MBNL activity in autoregulatory feedback loop in myotonic dystrophy
por: Rogalska, Zuzanna, et al.
Publicado: (2022)

MBNL splicing activity depends on RNA binding site structural context
por: Taylor, Katarzyna, et al.
Publicado: (2018)

Fishing for answers: MBNL2 in myotonic dystrophy
Publicado: (2011)

Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy
por: Wagner, Stacey D., et al.
Publicado: (2016)

Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy
por: Nutter, Curtis A., et al.
Publicado: (2019)

Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy
por: Sznajder, Łukasz J., et al.
Publicado: (2019)

Zebrafish mbnl mutants model physical and molecular phenotypes of myotonic dystrophy
por: Hinman, Melissa N., et al.
Publicado: (2021)

Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy
por: Lee, Kuang-Yung, et al.
Publicado: (2022)

Loss of MBNL1-mediated retrograde BDNF signaling in the myotonic dystrophy brain
por: Wang, Pei-Ying, et al.
Publicado: (2023)

RBFOX1 Cooperates with MBNL1 to Control Splicing in Muscle, Including Events Altered in Myotonic Dystrophy Type 1
por: Klinck, Roscoe, et al.
Publicado: (2014)

Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood
por: Sznajder, Łukasz J., et al.
Publicado: (2020)

Autoregulation of MBNL1 function by exon 1 exclusion from MBNL1 transcript
por: Konieczny, Patryk, et al.
Publicado: (2017)

MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1
por: Tahraoui‐Bories, Julie, et al.
Publicado: (2023)

A flow cytometry-based screen identifies MBNL1 modulators that rescue splicing defects in myotonic dystrophy type I
por: Zhang, Fan, et al.
Publicado: (2017)

Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy
por: Chen, Guiying, et al.
Publicado: (2016)

Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy
por: Wojtkowiak-Szlachcic, Agnieszka, et al.
Publicado: (2015)

Modulatory role of RNA helicases in MBNL-dependent alternative splicing regulation
por: Taylor, Katarzyna, et al.
Publicado: (2023)

MBNL proteins and their target RNAs, interaction and splicing regulation
por: Konieczny, Patryk, et al.
Publicado: (2014)

Mechanistic determinants of MBNL activity
por: Sznajder, Łukasz J., et al.
Publicado: (2016)

Calcitriol increases MBNL1 expression and alleviates myotonic dystrophy phenotypes in HSA(LR) mouse models
por: Huang, Kun, et al.
Publicado: (2022)

Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy
por: Thomas, James D., et al.
Publicado: (2017)

Modifications to toxic CUG RNAs induce structural stability, rescue mis-splicing in a myotonic dystrophy cell model and reduce toxicity in a myotonic dystrophy zebrafish model
por: deLorimier, Elaine, et al.
Publicado: (2014)

Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing
por: Franck, Silvie, et al.
Publicado: (2022)

HNRNPA1-induced spliceopathy in a transgenic mouse model of myotonic dystrophy
por: Li, Moyi, et al.
Publicado: (2020)

Peptide-conjugated antimiRs improve myotonic dystrophy type 1 phenotypes by promoting endogenous MBNL1 expression
por: González-Martínez, Irene, et al.
Publicado: (2023)

Identification of MBNL1 and MBNL3 domains required for splicing activation and repression
por: Grammatikakis, Ioannis, et al.
Publicado: (2011)

RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study
por: Perdoni, F., et al.
Publicado: (2009)

Proof of concept of peptide-linked blockmiR-induced MBNL functional rescue in myotonic dystrophy type 1 mouse model
por: Overby, Sarah J., et al.
Publicado: (2022)

Altered levels of the splicing factor muscleblind modifies cerebral cortical function in mouse models of myotonic dystrophy
por: Chen, Gang, et al.
Publicado: (2018)

Muscleblind-Like 1 Knockout Mice Reveal Novel Splicing Defects in the Myotonic Dystrophy Brain
por: Suenaga, Koichi, et al.
Publicado: (2012)

Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy
por: Chakraborty, Mouli, et al.
Publicado: (2018)

MBNL1 alternative splicing isoforms play opposing roles in cancer
por: Tabaglio, Tommaso, et al.
Publicado: (2018)

Alternative splicing mediates the compensatory upregulation of MBNL2 upon MBNL1 loss-of-function
por: Nitschke, Larissa, et al.
Publicado: (2023)

Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy
por: Rau, Frédérique, et al.
Publicado: (2015)

Myotonic dystrophy
por: Patterson, VH
Publicado: (1990)

Selective inhibition of MBNL1–CCUG interaction by small molecules toward potential therapeutic agents for myotonic dystrophy type 2 (DM2)(†)
por: Wong, Chun-Ho, et al.
Publicado: (2011)

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
por: Sellier, Chantal, et al.
Publicado: (2018)

RNA Splicing Is Responsive to MBNL1 Dose
por: Jog, Sonali P., et al.
Publicado: (2012)

MBNL expression in autoregulatory feedback loops
por: Konieczny, Patryk, et al.
Publicado: (2017)

Muscle Chloride Channel Dysfunction in Two Mouse Models of Myotonic Dystrophy
por: Lueck, John D., et al.
Publicado: (2007)

Cannot write session to /tmp/vufind_sessions/sess_bevulevahf55cquoje67682uju