Cargando…

MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1

AIMS: Myotonic dystrophy type I (DM1) is one of the most frequent muscular dystrophies in adults. Although DM1 has long been considered mainly a muscle disorder, growing evidence suggests the involvement of peripheral nerves in the pathogenicity of DM1 raising the question of whether motoneurons (MN...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tahraoui‐Bories, Julie, Mérien, Antoine, González‐Barriga, Anchel, Lainé, Jeanne, Leteur, Céline, Polvèche, Hélène, Carteron, Alexandre, De Lamotte, Juliette Duchesne, Nicoleau, Camille, Polentes, Jérome, Jarrige, Margot, Gomes‐Pereira, Mário, Ventre, Erwann, Poydenot, Pauline, Furling, Denis, Schaeffer, Laurent, Legay, Claire, Martinat, Cécile
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10107781/ https://www.ncbi.nlm.nih.gov/pubmed/36575942 http://dx.doi.org/10.1111/nan.12876

Ejemplares similares

CRISPR gene editing in pluripotent stem cells reveals the function of MBNL proteins during human in vitro myogenesis
por: Mérien, Antoine, et al.
Publicado: (2021)

Optogenetically controlled human functional motor endplate for testing botulinum neurotoxins
por: de Lamotte, Juliette Duchesne, et al.
Publicado: (2021)

SISTEMA: A large and standardized collection of transcriptome data sets for human pluripotent stem cell research
por: Jarrige, Margot, et al.
Publicado: (2021)

Pluripotent Stem Cell-Based Drug Screening Reveals Cardiac Glycosides as Modulators of Myotonic Dystrophy Type 1
por: Maury, Yves, et al.
Publicado: (2018)

Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes
por: Dincã, Diana M., et al.
Publicado: (2022)

Author Correction: Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes
por: Dincã, Diana M., et al.
Publicado: (2022)

Emerging Opportunities in Human Pluripotent Stem-Cells Based Assays to Explore the Diversity of Botulinum Neurotoxins as Future Therapeutics
por: Duchesne de Lamotte, Juliette, et al.
Publicado: (2021)

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

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

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

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

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

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)

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

Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies
por: Espinosa-Espinosa, Jorge, et al.
Publicado: (2022)

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

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

Autistic traits in myotonic dystrophy type 1 due to MBNL inhibition and RNA mis-splicing
por: Sznajder, Lukasz, et al.
Publicado: (2023)

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

A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle
por: Gudde, Anke E. E. G., et al.
Publicado: (2016)

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

Cells of Matter—In Vitro Models for Myotonic Dystrophy
por: Matloka, Magdalena, et al.
Publicado: (2018)

Mbnl1 and Mbnl2 regulate brain structural integrity in mice
por: Sta Maria, Naomi S., et al.
Publicado: (2021)

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines
por: Ketley, Ami, et al.
Publicado: (2014)

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)

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

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)

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

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)

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

New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats
por: Laurent, François-Xavier, et al.
Publicado: (2012)

Design and Analysis of Effects of Triplet Repeat Oligonucleotides in Cell Models for Myotonic Dystrophy
por: González-Barriga, Anchel, et al.
Publicado: (2013)

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)

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

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

Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1
por: Bérenger-Currias, Noémie, et al.
Publicado: (2023)

Cell Membrane Integrity in Myotonic Dystrophy Type 1: Implications for Therapy
por: González-Barriga, Anchel, et al.
Publicado: (2015)

MBNL1 reverses the proliferation defect of skeletal muscle satellite cells in myotonic dystrophy type 1 by inhibiting autophagy via the mTOR pathway
por: Song, Kai-Yi, et al.
Publicado: (2020)

BlockmiR AONs as Site-Specific Therapeutic MBNL Modulation in Myotonic Dystrophy 2D and 3D Muscle Cells and HSA(LR) Mice
por: Overby, Sarah J., et al.
Publicado: (2023)

Split luciferase-based assay to detect botulinum neurotoxins using hiPSC-derived motor neurons
por: Cotter, Laurent, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_1i9vac4bg47larnjiclqlt3042