M BEATRIZ LLAMUSI TROISI-rekin lankidetzan egindako argitalpenak (30)

2024

  1. AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action

    Science advances, Vol. 10, Núm. 41, pp. eadn6525

2023

  1. BlockmiR AONs as Site-Specific Therapeutic MBNL Modulation in Myotonic Dystrophy 2D and 3D Muscle Cells and HSALR Mice

    Pharmaceutics, Vol. 15, Núm. 4

  2. Peptide-conjugated antimiRs improve myotonic dystrophy type 1 phenotypes by promoting endogenous MBNL1 expression

    Molecular Therapy - Nucleic Acids, Vol. 34

2022

  1. Proof of concept of peptide-linked blockmiR-induced MBNL functional rescue in myotonic dystrophy type 1 mouse model

    Molecular Therapy - Nucleic Acids, Vol. 27, pp. 1146-1155

2021

  1. Defined d-hexapeptides bind CUG repeats and rescue phenotypes of myotonic dystrophy myotubes in a Drosophila model of the disease

    Scientific Reports, Vol. 11, Núm. 1

  2. Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy

    Molecular Therapy - Nucleic Acids, Vol. 26, pp. 174-191

  3. Rabphilin silencing causes dilated cardiomyopathy in a Drosophila model of nephrocyte damage

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Rabphilin involvement in filtration and molecular uptake in Drosophila nephrocytes suggests a similar role in human podocytes

    DMM Disease Models and Mechanisms, Vol. 13, Núm. 9

  2. Therapeutic Potential of AntagomiR-23b for Treating Myotonic Dystrophy

    Molecular Therapy - Nucleic Acids, Vol. 21, pp. 837-849

2018

  1. Correction: Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy (DMM Disease Models and Mechanisms (2018) 1111 (dmm032557) DOI: 10.1242/dmm.032557)

    DMM Disease Models and Mechanisms

  2. Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy

    DMM Disease Models and Mechanisms, Vol. 11, Núm. 4

  3. MiR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models

    Nature Communications, Vol. 9, Núm. 1

  4. Modeling of myotonic dystrophy cardiac phenotypes in Drosophila

    Frontiers in Neurology

  5. Optical Cross-Sectional Muscle Area Determination of Drosophila Melanogaster Adult Indirect Flight Muscles

    Journal of visualized experiments : JoVE

  6. RNA-mediated therapies in myotonic dystrophy

    Drug Discovery Today, Vol. 23, Núm. 12, pp. 2013-2022

  7. RbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

    Nature Communications, Vol. 9, Núm. 1

  8. The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway

    DMM Disease Models and Mechanisms, Vol. 11, Núm. 1

2017

  1. Expanded CCUG repeat RNA expression in Drosophila heart and muscle trigger Myotonic Dystrophy type 1-like phenotypes and activate autophagocytosis genes

    Scientific Reports, Vol. 7, Núm. 1

  2. In silico discovery of substituted pyrido[2,3-d] pyrimidines and pentamidine-like compounds with biological activity in myotonic dystrophy models

    PLoS ONE, Vol. 12, Núm. 6

2016

  1. Derepressing muscleblind expression by miRNA sponges ameliorates myotonic dystrophy-like phenotypes in Drosophila

    Scientific Reports, Vol. 6