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Journal articles on the topic 'MuscleBlind Like (MBNL)'

Author: Grafiati

Published: 14 December 2024

Last updated: 31 July 2025

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1

Bargiela, Ariadna, Maria Sabater-Arcis, Jorge Espinosa-Espinosa, Miren Zulaica, Adolfo Lopez de Munain, and Ruben Artero. "Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models." Proceedings of the National Academy of Sciences 116, no. 50 (2019): 25203–13. http://dx.doi.org/10.1073/pnas.1820297116.

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Myotonic dystrophy type 1 (DM1) is a life-threatening and chronically debilitating neuromuscular disease caused by the expansion of a CTG trinucleotide repeat in the 3′ UTR of the DMPK gene. The mutant RNA forms insoluble structures capable of sequestering RNA binding proteins of the Muscleblind-like (MBNL) family, which ultimately leads to phenotypes. In this work, we demonstrate that treatment with the antiautophagic drug chloroquine was sufficient to up-regulate MBNL1 and 2 proteins in Drosophila and mouse (HSALR) models and patient-derived myoblasts. Extra Muscleblind was functional at the

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2

Voss, Dillon, Anthony Sloan, Eli Bar, and Eli Bar. "TAMI-49. THE ALTERNATIVE SPLICING FACTOR MBNL1 INHIBITS GLIOBLASTOMA TUMOR INITIATION AND PROGRESSION BY REDUCING HYPOXIA-INDUCED STEMNESS." Neuro-Oncology 22, Supplement_2 (2020): ii223—ii224. http://dx.doi.org/10.1093/neuonc/noaa215.936.

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Abstract Muscleblind-like-proteins (MBNL) belong to a family of tissue-specific RNA metabolism-regulators that control pre-messenger RNA-splicing (AS). Inactivation of MBNL causes an adult-to-fetal AS transition, resulting in the development of myotonic dystrophy. We have previously shown that the aggressive brain cancer, glioblastoma (GBM), maintains stem-like features (GSC) through hypoxia-induced responses. Accordingly, we hypothesized that the hypoxia-induced responses in GBM might also include MBNL-based AS to promote tumor progression. When cultured in hypoxia, GSCs rapidly export MBNL1

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3

Gabel, Austin M., Edie I. Crosse, Andrea E. Belleville, et al. "Muscleblind-like proteins are novel modulators of the tumor-immune microenvironment." PLOS One 20, no. 4 (2025): e0321148. https://doi.org/10.1371/journal.pone.0321148.

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Exploiting the immune system to eradicate cancer cells is an area of intense clinical study. However, the mechanisms that shape the tumor-immune microenvironment are incompletely understood. Here, we identify Muscleblind-like (MBNL) proteins as novel modulators of the tumor-immune microenvironment across diverse cancers. We demonstrate that loss of tumor MBNL expression results in an attenuated response to interferon gamma and reduced tumor antigen presentation in melanoma, breast cancer, and colorectal cancer cells. Parallel experiments in a syngeneic mouse melanoma model revealed that MBNL l

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Overby, Sarah, Estefanía Cerro-Herreros, Jorge Espinosa-Espinosa, et al. "BlockmiR AONs as Site-Specific Therapeutic MBNL Modulation in Myotonic Dystrophy 2D and 3D Muscle Cells and HSALR Mice." Pharmaceutics 15, no. 4 (2023): 1118. http://dx.doi.org/10.3390/pharmaceutics15041118.

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The symptoms of Myotonic Dystrophy Type 1 (DM1) are multi-systemic and life-threatening. The neuromuscular disorder is rooted in a non-coding CTG microsatellite expansion in the DM1 protein kinase (DMPK) gene that, upon transcription, physically sequesters the Muscleblind-like (MBNL) family of splicing regulator proteins. The high-affinity binding occurring between the proteins and the repetitions disallow MBNL proteins from performing their post-transcriptional splicing regulation leading to downstream molecular effects directly related to disease symptoms such as myotonia and muscle weakness

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5

Yadava, Ramesh S., Mahua Mandal, and Mani S. Mahadevan. "Studying the Effect of MBNL1 and MBNL2 Loss in Skeletal Muscle Regeneration." International Journal of Molecular Sciences 25, no. 5 (2024): 2687. http://dx.doi.org/10.3390/ijms25052687.

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Loss of function of members of the muscleblind-like (MBNL) family of RNA binding proteins has been shown to play a key role in the spliceopathy of RNA toxicity in myotonic dystrophy type 1 (DM1), the most common muscular dystrophy affecting adults and children. MBNL1 and MBNL2 are the most abundantly expressed members in skeletal muscle. A key aspect of DM1 is poor muscle regeneration and repair, leading to dystrophy. We used a BaCl2-induced damage model of muscle injury to study regeneration and effects on skeletal muscle satellite cells (MuSCs) in Mbnl1∆E3/∆E3 and Mbnl2∆E2/∆E2 knockout mice.

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6

González, Àlex L., Daniel Fernández-Remacha, José Ignacio Borrell, Jordi Teixidó, and Roger Estrada-Tejedor. "Cognate RNA-Binding Modes by the Alternative-Splicing Regulator MBNL1 Inferred from Molecular Dynamics." International Journal of Molecular Sciences 23, no. 24 (2022): 16147. http://dx.doi.org/10.3390/ijms232416147.

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The muscleblind-like protein family (MBNL) plays a prominent role in the regulation of alternative splicing. Consequently, the loss of MBNL function resulting from sequestration by RNA hairpins triggers the development of a neuromuscular disease called myotonic dystrophy (DM). Despite the sequence and structural similarities between the four zinc-finger domains that form MBNL1, recent studies have revealed that the four binding domains have differentiated splicing activity. The dynamic behaviors of MBNL1 ZnFs were simulated using conventional molecular dynamics (cMD) and steered molecular dyna

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7

Verbeeren, Jens, Joana Teixeira, and Susana M. D. A. Garcia. "The Muscleblind-like protein MBL-1 regulates microRNA expression in Caenorhabditis elegans through an evolutionarily conserved autoregulatory mechanism." PLOS Genetics 19, no. 12 (2023): e1011109. http://dx.doi.org/10.1371/journal.pgen.1011109.

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The Muscleblind-like (MBNL) family is a highly conserved set of RNA-binding proteins (RBPs) that regulate RNA metabolism during the differentiation of various animal tissues. Functional insufficiency of MBNL affects muscle and central nervous system development, and contributes to the myotonic dystrophies (DM), a set of incurable multisystemic disorders. Studies on the regulation of MBNL genes are essential to provide insight into the gene regulatory networks controlled by MBNL proteins and to understand how dysregulation within these networks causes disease. In this study, we demonstrate the

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8

Terenzi, Fulvia, and Andrea N. Ladd. "Conserved developmental alternative splicing of muscleblind-like (MBNL) transcripts regulates MBNL localization and activity." RNA Biology 7, no. 1 (2010): 43–55. http://dx.doi.org/10.4161/rna.7.1.10401.

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9

López-Martínez, Andrea, Patricia Soblechero-Martín, Laura de-la-Puente-Ovejero, Gisela Nogales-Gadea, and Virginia Arechavala-Gomeza. "An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I." Genes 11, no. 9 (2020): 1109. http://dx.doi.org/10.3390/genes11091109.

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Myotonic dystrophy type I (DM1) is the most common form of adult muscular dystrophy, caused by expansion of a CTG triplet repeat in the 3′ untranslated region (3′UTR) of the myotonic dystrophy protein kinase (DMPK) gene. The pathological CTG repeats result in protein trapping by expanded transcripts, a decreased DMPK translation and the disruption of the chromatin structure, affecting neighboring genes expression. The muscleblind-like (MBNL) and CUG-BP and ETR-3-like factors (CELF) are two families of tissue-specific regulators of developmentally programmed alternative splicing that act as ant

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10

Sznajder, Łukasz J., and Maurice S. Swanson. "Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy." International Journal of Molecular Sciences 20, no. 13 (2019): 3365. http://dx.doi.org/10.3390/ijms20133365.

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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 DM1 and DM2 propose a common pathomechanism, whereby the transcription of mutant DMPK (DM1) and CNBP (DM2) genes results in the synthesis of CUG and CCUG repeat expansion (CUGexp, CCUGexp) RNAs, respectively. These CUGexp and CCUGexp RNAs are toxic since they promote the assembly of ribonucleoprotein (RNP) complexes or RNA foci, leading to sequestration of Muscleblind-like (MBN

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11

Tanner, Matthew K., Zhenzhi Tang, and Charles A. Thornton. "Targeted splice sequencing reveals RNA toxicity and therapeutic response in myotonic dystrophy." Nucleic Acids Research 49, no. 4 (2021): 2240–54. http://dx.doi.org/10.1093/nar/gkab022.

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Abstract Biomarker-driven trials hold promise for therapeutic development in chronic diseases, such as muscular dystrophy. Myotonic dystrophy type 1 (DM1) involves RNA toxicity, where transcripts containing expanded CUG-repeats (CUGexp) accumulate in nuclear foci and sequester splicing factors in the Muscleblind-like (Mbnl) family. Oligonucleotide therapies to mitigate RNA toxicity have emerged but reliable measures of target engagement are needed. Here we examined muscle transcriptomes in mouse models of DM1 and found that CUGexp expression or Mbnl gene deletion cause similar dysregulation of

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12

López Castel, Arturo, Sarah Joann Overby, and Rubén Artero. "MicroRNA-Based Therapeutic Perspectives in Myotonic Dystrophy." International Journal of Molecular Sciences 20, no. 22 (2019): 5600. http://dx.doi.org/10.3390/ijms20225600.

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Myotonic dystrophy involves two types of chronically debilitating rare neuromuscular diseases: type 1 (DM1) and type 2 (DM2). Both share similarities in molecular cause, clinical signs, and symptoms with DM2 patients usually displaying milder phenotypes. It is well documented that key clinical symptoms in DM are associated with a strong mis-regulation of RNA metabolism observed in patient’s cells. This mis-regulation is triggered by two leading DM-linked events: the sequestration of Muscleblind-like proteins (MBNL) and the mis-regulation of the CUGBP RNA-Binding Protein Elav-Like Family Member

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13

Holm, Frida, Eva Hellqvist, Cayla N. Mason, et al. "Reversion to an embryonic alternative splicing program enhances leukemia stem cell self-renewal." Proceedings of the National Academy of Sciences 112, no. 50 (2015): 15444–49. http://dx.doi.org/10.1073/pnas.1506943112.

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Formative research suggests that a human embryonic stem cell-specific alternative splicing gene regulatory network, which is repressed by Muscleblind-like (MBNL) RNA binding proteins, is involved in cell reprogramming. In this study, RNA sequencing, splice isoform-specific quantitative RT-PCR, lentiviral transduction, and in vivo humanized mouse model studies demonstrated that malignant reprogramming of progenitors into self-renewing blast crisis chronic myeloid leukemia stem cells (BC LSCs) was partially driven by decreased MBNL3. Lentiviral knockdown of MBNL3 resulted in reversion to an embr

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14

Huang, Hu, Karl J. Wahlin, Minda McNally, Natasha D. Irving, and Ruben Adler. "Developmental regulation of muscleblind-like (MBNL) gene expression in the chicken embryo retina." Developmental Dynamics 237, no. 1 (2008): 286–96. http://dx.doi.org/10.1002/dvdy.21408.

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15

Tabaglio, Tommaso, Diana HP Low, Winnie Koon Lay Teo, et al. "MBNL1 alternative splicing isoforms play opposing roles in cancer." Life Science Alliance 1, no. 5 (2018): e201800157. http://dx.doi.org/10.26508/lsa.201800157.

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The extent of and the oncogenic role played by alternative splicing (AS) in cancer are well documented. Nonetheless, only few studies have attempted to dissect individual gene function at an isoform level. Here, we focus on the AS of splicing factors during prostate cancer progression, as these factors are known to undergo extensive AS and have the potential to affect hundreds of downstream genes. We identified exon 7 (ex7) in the MBNL1 (Muscleblind-like 1) transcript as being the most differentially included exon in cancer, both in cell lines and in patients' samples. In contrast, MBNL1 overa

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16

Penna, Matthew S., Rong-Chi Hu, George G. Rodney, and Thomas A. Cooper. "The role ofLimch1alternative splicing in skeletal muscle function." Life Science Alliance 6, no. 6 (2023): e202201868. http://dx.doi.org/10.26508/lsa.202201868.

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Postnatal skeletal muscle development is a highly dynamic period associated with widespread alternative splicing changes required to adapt tissues to adult function. These splicing events have significant implications because the reversion of adult mRNA isoforms to fetal isoforms is observed in forms of muscular dystrophy. LIMCH1 is a stress fiber–associated protein that is alternatively spliced to generate uLIMCH1, a ubiquitously expressed isoform, and mLIMCH1, a skeletal muscle–specific isoform containing six additional exons simultaneously included after birth in the mouse. CRISPR/Cas9 was

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17

Xie, Jianxin, Wei Zou, Madina Tugizova, Kang Shen, and Xiangming Wang. "MBL-1 and EEL-1 affect the splicing and protein levels of MEC-3 to control dendrite complexity." PLOS Genetics 19, no. 9 (2023): e1010941. http://dx.doi.org/10.1371/journal.pgen.1010941.

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Transcription factors (TFs) play critical roles in specifying many aspects of neuronal cell fate including dendritic morphology. How TFs are accurately regulated during neuronal morphogenesis is not fully understood. Here, we show that LIM homeodomain protein MEC-3, the key TF for C. elegans PVD dendrite morphogenesis, is regulated by both alternative splicing and an E3 ubiquitin ligase. The mec-3 gene generates several transcripts by alternative splicing. We find that mbl-1, the orthologue of the muscular dystrophy disease gene muscleblind-like (MBNL), is required for PVD dendrite arbor forma

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18

Li, Moyi, Yan Zhuang, Ranjan Batra, et al. "HNRNPA1-induced spliceopathy in a transgenic mouse model of myotonic dystrophy." Proceedings of the National Academy of Sciences 117, no. 10 (2020): 5472–77. http://dx.doi.org/10.1073/pnas.1907297117.

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Studies on myotonic dystrophy type 1 (DM1) have led to the RNA-mediated disease model for hereditary disorders caused by noncoding microsatellite expansions. This model proposes that DM1 disease manifestations are caused by a reversion to fetal RNA processing patterns in adult tissues due to the expression of toxic CUG RNA expansions (CUGexp) leading to decreased muscleblind-like, but increased CUGBP1/ETR3-like factor 1 (CELF1), alternative splicing activities. Here, we test this model in vivo, using the mouse HSALR poly(CUG) model for DM1 and recombinant adeno-associated virus (rAAV)-mediated

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19

Stepniak-Konieczna, Ewa, Patryk Konieczny, Piotr Cywoniuk, Julia Dluzewska, and Krzysztof Sobczak. "AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1." Nucleic Acids Research 48, no. 5 (2020): 2531–43. http://dx.doi.org/10.1093/nar/gkaa007.

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Abstract Expansion of an unstable CTG repeat in the 3′UTR of the DMPK gene causes Myotonic Dystrophy type 1 (DM1). CUG-expanded DMPK transcripts (CUGexp) sequester Muscleblind-like (MBNL) alternative splicing regulators in ribonuclear inclusions (foci), leading to abnormalities in RNA processing and splicing. To alleviate the burden of CUGexp, we tested therapeutic approach utilizing antisense oligonucleotides (AONs)-mediated DMPK splice-switching and degradation of mutated pre-mRNA. Experimental design involved: (i) skipping of selected constitutive exons to induce frameshifting and decay of

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20

Wang, Eric T., Daniel Treacy, Katy Eichinger, et al. "Transcriptome alterations in myotonic dystrophy skeletal muscle and heart." Human Molecular Genetics 28, no. 8 (2018): 1312–21. http://dx.doi.org/10.1093/hmg/ddy432.

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Abstract Myotonic dystrophy (dystrophia myotonica, DM) is a multi-systemic disease caused by expanded CTG or CCTG microsatellite repeats. Characterized by symptoms in muscle, heart and central nervous system, among others, it is one of the most variable diseases known. A major pathogenic event in DM is the sequestration of muscleblind-like proteins by CUG or CCUG repeat-containing RNAs transcribed from expanded repeats, and differences in the extent of MBNL sequestration dependent on repeat length and expression level may account for some portion of the variability. However, many other cellula

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Holm, Frida Linnea, Eva Hellqvist, Cayla N. Mason, et al. "Reversion to an Embryonic Alternative Splicing Program Enhances Leukemia Stem Cell Self-Renewal." Blood 126, no. 23 (2015): 1227. http://dx.doi.org/10.1182/blood.v126.23.1227.1227.

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Abstract Background Formative research suggests that a human embryonic stem cell-specific alternative splicing gene regulatory network, which is repressed by Muscleblind-like (MBNL) RNA binding proteins, is involved in cell reprogramming. However, its role in malignant reprogramming of progenitors into self-renewing leukemia stem cells (LSCs) had not been established. Methods Whole transcriptome RNA sequencing (RNA-seq) was performed on FACS purified progenitors from normal, chronic phase and blast crisis chronic myeloid leukemia samples and analyzed using Cuff-links, GSEA and IPA software. Sp

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Ihsan, M. O., D. M. Tan, U. Muniasamy, et al. "Muscleblind-like (MBNL) protein family overexpression lead to pro-synthetic phenotype modulation of arterial human vascular smooth muscle cells in diabetes mellitus." Atherosclerosis 355 (August 2022): 205–6. http://dx.doi.org/10.1016/j.atherosclerosis.2022.06.821.

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23

Ju, Woong, Hye Youn Sung, and Jung-Hyuck Ahn. "Abstract B091: Overexpression of Muscleblind Like Splicing Regulator 2 (MBNL2) enhances cisplatin resistance in ovarian cancer." Molecular Cancer Therapeutics 22, no. 12_Supplement (2023): B091. http://dx.doi.org/10.1158/1535-7163.targ-23-b091.

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Abstract Ovarian cancer is the second most commonly diagnosed gynecological cancer and has the highest mortality rate of all gynecological cancers worldwide. Although cisplatin is one of the most effective antitumor drugs for ovarian cancer, the emergence of chemoresistance to cisplatin is a major barrier to successful therapy. To identify epigenetically regulated genes directly associated with ovarian cancer cisplatin resistance, we compared the expression and methylation profiles of cisplatin-sensitive and -resistant human ovarian cancer cell lines. We identified Muscleblind Like Splicing Re

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Chen, Jiaorong, Jiaqi Wang, Jingyi Qian, Mengying Bao, Xin Zhang, and Zheng Huang. "MBNL1 Suppressed Cancer Metastatic of Skin Squamous Cell Carcinoma Via by TIAL1/MYOD1/Caspase-9/3 Signaling Pathways." Technology in Cancer Research & Treatment 20 (January 1, 2021): 153303382096075. http://dx.doi.org/10.1177/1533033820960755.

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Objective: The incidence of skin squamous cell carcinoma (SSCC) has recently been increasing, with diverse clinical manifestations.SSCC could metastasize to lymph nodes or other organs, posing a great threat to life. The present study was designed to investigate the function and underlying mechanism of muscleblind-like protein 1 (MBNL1) in skin squamous cell carcinoma. Methods: SCL-1 cell was used for vitro model and transfected with MBNL1 or siMBNL1 plasmids. MTT Assays, LDH activity ELISA, and Transwell chamber migration experiment were used to confirm the effects of MBNL1 on cell growth of

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Tran, Hélène, Nathalie Gourrier, Camille Lemercier-Neuillet, et al. "Analysis of Exonic Regions Involved in Nuclear Localization, Splicing Activity, and Dimerization of Muscleblind-like-1 Isoforms." Journal of Biological Chemistry 286, no. 18 (2011): 16435–46. http://dx.doi.org/10.1074/jbc.m110.194928.

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Muscleblind-like-1 (MBNL1) is a splicing regulatory factor controlling the fetal-to-adult alternative splicing transitions during vertebrate muscle development. Its capture by nuclear CUG expansions is one major cause for type 1 myotonic dystrophy (DM1). Alternative splicing produces MBNL1 isoforms that differ by the presence or absence of the exonic regions 3, 5, and 7. To understand better their respective roles and the consequences of the deregulation of their expression in DM1, here we studied the respective roles of MBNL1 alternative and constitutive exons. By combining genetics, molecula

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Cheng, Albert W., Jiahai Shi, Piu Wong, et al. "Muscleblind-like 1 (Mbnl1) regulates pre-mRNA alternative splicing during terminal erythropoiesis." Blood 124, no. 4 (2014): 598–610. http://dx.doi.org/10.1182/blood-2013-12-542209.

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Sun, Xueqin, Xinghua Diao, Xiaolin Zhu, Xuexue Yin, and Guangying Cheng. "Nanog-mediated stem cell properties are critical for MBNL3-associated paclitaxel resistance of ovarian cancer." Journal of Biochemistry 169, no. 6 (2021): 747–56. http://dx.doi.org/10.1093/jb/mvab021.

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Abstract Paclitaxel (PTX) is the standard first-line treatment of ovarian cancer, but its efficacy is limited by multidrug resistance. Therefore, it is crucial to identify effective drug targets to facilitate PTX sensitivity for ovarian cancer treatment. Seventy PTX-administrated ovarian cancer patients were recruited in this study for gene expression and survival rate analyses. Muscleblind-like-3 (MBNL3) gain-of-function and loss-of-function experiments were carried out in ovarian cancer cells (parental and PTX-resistant) and xenograft model. Cancer cell viability, apoptosis, spheroids format

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Gates, Devika P., Leslie A. Coonrod, and J. Andrew Berglund. "Autoregulated Splicing of muscleblind-like 1 (MBNL1) Pre-mRNA." Journal of Biological Chemistry 286, no. 39 (2011): 34224–33. http://dx.doi.org/10.1074/jbc.m111.236547.

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Cai, Jin, Ningchao Wang, Guanglan Lin, et al. "MBNL2 Regulates DNA Damage Response via Stabilizing p21." International Journal of Molecular Sciences 22, no. 2 (2021): 783. http://dx.doi.org/10.3390/ijms22020783.

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RNA-binding proteins are frequently dysregulated in human cancer and able to modulate tumor cell proliferation as well as tumor metastasis through post-transcriptional regulation on target genes. Abnormal DNA damage response and repair mechanism are closely related to genome instability and cell transformation. Here, we explore the function of the RNA-binding protein muscleblind-like splicing regulator 2 (MBNL2) on tumor cell proliferation and DNA damage response. Transcriptome and gene expression analysis show that the PI3K/AKT pathway is enriched in MBNL2-depleted cells, and the expression o

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López, Castel Arturo. "Development of a Drosophila melanogaster spliceosensor system for in vivo high-throughput screening in myotonic dystrophy type 1." Dis Model Mech 7, no. 11 (2014): 1297–306. https://doi.org/10.1242/dmm.016592.

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Alternative splicing of pre-mRNAs is an important mechanism that regulates cellular function in higher eukaryotes. A growing number of human genetic diseases involve splicing defects that are directly connected to their pathology. In myotonic dystrophy type 1 (DM1), several clinical manifestations have been proposed to be the consequence of tissue-specific missplicing of numerous genes. These events are triggered by an RNA gain-of-function and resultant deregulation of specific RNA-binding factors, such as the nuclear sequestration of muscleblind-like family factors (MBNL1-MBNL3). Thus, the id

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Li, Yanbing, Min Zong, Xiaonan Guan, et al. "MBNL1-AS1 Promotes Hypoxia-Induced Myocardial Infarction via the miR-132-3p/RAB14/CAMTA1 Axis." Oxidative Medicine and Cellular Longevity 2023 (February 4, 2023): 1–12. http://dx.doi.org/10.1155/2023/3308725.

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Background. Mounting evidence have indicated that long noncoding RNA (lncRNA) muscleblind like splicing regulator 1 antisense RNA 1 (MBNL1-AS1) play a crucial regulatory role in cardiovascular disease, myocardial infarction (MI) included. In this research, we sought to probe into the biological function and potential mechanism of MBNL1-AS1 in MI. Methods. Cardiomyocytes were treated under hypoxic conditions for 0–12 h. Functional assays including CCK-8 and flow cytometry were performed to assess hypoxia-stimulated cardiomyocyte viability and apoptosis, respectively. Moreover, bioinformatics an

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Yokoyama, Shingo, Yoshitaka Ohno, Tatsuro Egawa, et al. "MBNL1-Associated Mitochondrial Dysfunction and Apoptosis in C2C12 Myotubes and Mouse Skeletal Muscle." International Journal of Molecular Sciences 21, no. 17 (2020): 6376. http://dx.doi.org/10.3390/ijms21176376.

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We explored the interrelationship between a tissue-specific alternative splicing factor muscleblind-like 1 (MBNL1) and peroxisome proliferator-activated receptor-γ coactivator 1-α (PGC-1α), B-cell lymphoma 2 (Bcl-2) or Bcl-2-associated X protein (Bax) in C2C12 myotubes and mouse skeletal muscle to investigate a possible physiological role of MBNL1 in mitochondrial-associated apoptosis of skeletal muscle. Expression level of PGC-1α and mitochondrial membrane potential evaluated by the fluorescence ratio of JC-1 aggregate to monomer in C2C12 myotubes were suppressed by knockdown of MBNL1. Conver

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Hao, Minqi, Kevan Akrami, Ke Wei, et al. "Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy." Developmental Dynamics 237, no. 2 (2008): 403–10. http://dx.doi.org/10.1002/dvdy.21428.

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Seachrist, Darcie D., Molly M. Hannigan, Natasha N. Ingles, et al. "The transcriptional repressor BCL11A promotes breast cancer metastasis." Journal of Biological Chemistry 295, no. 33 (2020): 11707–19. http://dx.doi.org/10.1074/jbc.ra120.014018.

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The phenotypes of each breast cancer subtype are defined by their transcriptomes. However, the transcription factors that regulate differential patterns of gene expression that contribute to specific disease outcomes are not well understood. Here, using gene silencing and overexpression approaches, RNA-Seq, and splicing analysis, we report that the transcription factor B-cell leukemia/lymphoma 11A (BCL11A) is highly expressed in triple-negative breast cancer (TNBC) and drives metastatic disease. Moreover, BCL11A promotes cancer cell invasion by suppressing the expression of muscleblind-like sp

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Teplova, Marianna, and Dinshaw J. Patel. "Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1." Nature Structural & Molecular Biology 15, no. 12 (2008): 1343–51. http://dx.doi.org/10.1038/nsmb.1519.

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36

Lee, Johanna E., and Thomas A. Cooper. "Pathogenic mechanisms of myotonic dystrophy." Biochemical Society Transactions 37, no. 6 (2009): 1281–86. http://dx.doi.org/10.1042/bst0371281.

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DM (myotonic dystrophy) is a dominantly inherited genetic disorder that is the most common cause of muscular dystrophy in adults affecting 1 in 8500 individuals worldwide. Different microsatellite expansions in two loci cause different forms of the disease that share similar features: DM1 (DM type 1) is caused by a tri- (CTG) nucleotide expansion within the DMPK (dystrophia myotonica protein kinase) 3′-untranslated region and DM2 (DM type 2) is caused by a tetra- (CCTG) nucleotide expansion within intron 1 of the ZNF9 (zinc finger 9) gene. The pathogenic mechanism of this disease involves the

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Ramon-Duaso, Carla, Thomas Gener, Marta Consegal, et al. "Methylphenidate Attenuates the Cognitive and Mood Alterations Observed in Mbnl2 Knockout Mice and Reduces Microglia Overexpression." Cerebral Cortex 29, no. 7 (2018): 2978–97. http://dx.doi.org/10.1093/cercor/bhy164.

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Abstract Myotonic dystrophy type 1 (DM1) is a multisystem disorder affecting muscle and central nervous system (CNS) function. The cellular mechanisms underlying CNS alterations are poorly understood and no useful treatments exist for the neuropsychological deficits observed in DM1 patients. We investigated the progression of behavioral deficits present in male and female muscleblind-like 2 (Mbnl2) knockout (KO) mice, a rodent model of CNS alterations in DM1, and determined the biochemical and electrophysiological correlates in medial prefrontal cortex (mPFC), striatum and hippocampus (HPC). M

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Ballester-Lopez, Alfonsina, Judit Núñez-Manchón, Emma Koehorst, et al. "Three-dimensional imaging in myotonic dystrophy type 1." Neurology Genetics 6, no. 4 (2020): e484. http://dx.doi.org/10.1212/nxg.0000000000000484.

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ObjectiveWe aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1).MethodsWe obtained myoblasts from 6 patients with DM1 and 6 controls. We measured cytosine-thymine-guanine (CTG) expansion and detected RNA foci and muscleblind like 1 (MBNL1) through 3D reconstruction. We studied dystrophia myotonica protein kinase (DMPK) expression and splicing alterations of MBNL1, insulin receptor, and sarcoplasmic reticulum Ca(2+)-ATPase 1.ResultsThree-dimensional analysis showed that RNA foci (nuclear and/or cytoplasmic) w

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Smith, Kelly P., Meg Byron, Carol Johnson, Yigong Xing, and Jeanne B. Lawrence. "Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains." Journal of Cell Biology 178, no. 6 (2007): 951–64. http://dx.doi.org/10.1083/jcb.200706048.

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In myotonic dystrophy type 1 (DM1), triplet repeat expansion in the 3′ untranslated region of dystrophia myotonica protein kinase (DMPK) causes the nuclear retention of mutant messenger RNA (mRNA). Although the DMPK gene locus positions precisely at the outer edge of a factor-rich SC-35 domain, the normal mRNA consistently accumulates within the domain, and this RNA is depleted upon transcriptional inhibition. In DM1, mutant transcripts detach from the gene but accumulate in granules that abut but do not enter SC-35 domains, suggesting that RNA entry into the domain is blocked. Despite their e

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Herrendorff, Ruben, Maria Teresa Faleschini, Adeline Stiefvater, et al. "Identification of Plant-derived Alkaloids with Therapeutic Potential for Myotonic Dystrophy Type I." Journal of Biological Chemistry 291, no. 33 (2016): 17165–77. http://dx.doi.org/10.1074/jbc.m115.710616.

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Myotonic dystrophy type I (DM1) is a disabling neuromuscular disease with no causal treatment available. This disease is caused by expanded CTG trinucleotide repeats in the 3′ UTR of the dystrophia myotonica protein kinase gene. On the RNA level, expanded (CUG)n repeats form hairpin structures that sequester splicing factors such as muscleblind-like 1 (MBNL1). Lack of available MBNL1 leads to misregulated alternative splicing of many target pre-mRNAs, leading to the multisystemic symptoms in DM1. Many studies aiming to identify small molecules that target the (CUG)n-MBNL1 complex focused on sy

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Neault, Nafisa, Aymeric Ravel-Chapuis, Stephen D. Baird, et al. "Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model." International Journal of Molecular Sciences 24, no. 4 (2023): 3794. http://dx.doi.org/10.3390/ijms24043794.

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Myotonic dystrophy type 1 (DM1), the most common form of adult muscular dystrophy, is caused by an abnormal expansion of CTG repeats in the 3′ untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. The expanded repeats of the DMPK mRNA form hairpin structures in vitro, which cause misregulation and/or sequestration of proteins including the splicing regulator muscleblind-like 1 (MBNL1). In turn, misregulation and sequestration of such proteins result in the aberrant alternative splicing of diverse mRNAs and underlie, at least in part, DM1 pathogenesis. It has been previous

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Lee, Kyung-Soon, Yi Cao, Hanna E. Witwicka, Susan Tom, Stephen J. Tapscott та Edith H. Wang. "RNA-binding Protein Muscleblind-like 3 (MBNL3) Disrupts Myocyte Enhancer Factor 2 (Mef2) β-Exon Splicing". Journal of Biological Chemistry 285, № 44 (2010): 33779–87. http://dx.doi.org/10.1074/jbc.m110.124255.

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Neault, Nafisa, Sean O’Reilly, Aiman Tariq Baig, et al. "High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1)." PLOS ONE 16, no. 9 (2021): e0256276. http://dx.doi.org/10.1371/journal.pone.0256276.

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Myotonic Dystrophy Type 1 (DM1) is the most common form of adult muscular dystrophy (~1:8000). In DM1, expansion of CTG trinucleotide repeats in the 3’ untranslated region of the dystrophia myotonica protein kinase (DMPK) gene results in DMPK mRNA hairpin structures which aggregate as insoluble ribonuclear foci and sequester several RNA-binding proteins. The resulting sequestration and misregulation of important splicing factors, such as muscleblind-like 1 (MBNL1), causes the aberrant expression of fetal transcripts for several genes that contribute to the disease phenotype. Previous work has

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Gurunathan, Arun, Lana S. Itskovich, Jason Clark, et al. "MLL-Fusion Leukemia Dependence on MBNL1 Is Associated with Alternative Splicing of Oncogenic Proteins." Blood 132, Supplement 1 (2018): 3883. http://dx.doi.org/10.1182/blood-2018-99-112349.

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Abstract Leukemia is the most common childhood cancer, and while outcomes for most children have improved significantly, the prognosis in infant leukemia remains dire. The majority of infant leukemia, either acute myeloid (AML) or acute lymphoid (ALL), is caused by reciprocal translocations of the MLL-gene. Prior studies show that one of the most consistently overexpressed genes in these leukemias (compared to all other leukemias) is the RNA binding protein muscleblind-like 1 (MBNL1). We found that MBNL1 knockdown significantly impairs propagation of MLL-rearranged (MLLr) leukemic cells in vit

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Itskovich, Svetlana S., Jason Clark, James C. Mulloy, Matthew D. Disney, and Ashish R. Kumar. "MBNL1 As a New Therapeutic Target in MLL-Fusion Gene Leukemia." Blood 126, no. 23 (2015): 462. http://dx.doi.org/10.1182/blood.v126.23.462.462.

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Abstract Translocations of the Mixed Lineage Leukemia (MLL) gene located on chromosome 11 are commonly found in infants with AML or ALL and in secondary leukemia at all ages. A majority of patients with these translocations have a poor prognosis. Gene expression profiling studies demonstrate that one of the most consistently overexpressed genes in these leukemias (compared to all other leukemias) is muscleblind-like 1 (MBNL1). Further, MBNL1 was also identified as a direct transcriptional target of MLL-fusion proteins. An RNA-binding protein, MBNL1 is known to be a key factor in the pathophysi

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Angelbello, Alicia J., Suzanne G. Rzuczek, Kendra K. Mckee, et al. "Precise small-molecule cleavage of an r(CUG) repeat expansion in a myotonic dystrophy mouse model." Proceedings of the National Academy of Sciences 116, no. 16 (2019): 7799–804. http://dx.doi.org/10.1073/pnas.1901484116.

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Myotonic dystrophy type 1 (DM1) is an incurable neuromuscular disorder caused by an expanded CTG repeat that is transcribed into r(CUG)exp. The RNA repeat expansion sequesters regulatory proteins such as Muscleblind-like protein 1 (MBNL1), which causes pre-mRNA splicing defects. The disease-causing r(CUG)exp has been targeted by antisense oligonucleotides, CRISPR-based approaches, and RNA-targeting small molecules. Herein, we describe a designer small molecule, Cugamycin, that recognizes the structure of r(CUG)exp and cleaves it in both DM1 patient-derived myotubes and a DM1 mouse model, leavi

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Sen, Supriya, Indrani Talukdar, Ying Liu, Joseph Tam, Sita Reddy, and Nicholas J. G. Webster. "Muscleblind-like 1 (Mbnl1) Promotes Insulin Receptor Exon 11 Inclusion via Binding to a Downstream Evolutionarily Conserved Intronic Enhancer." Journal of Biological Chemistry 285, no. 33 (2010): 25426–37. http://dx.doi.org/10.1074/jbc.m109.095224.

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deLorimier, Elaine, Melissa N. Hinman, Jeremy Copperman, Kausiki Datta, Marina Guenza, and J. Andrew Berglund. "Pseudouridine Modification Inhibits Muscleblind-like 1 (MBNL1) Binding to CCUG Repeats and Minimally Structured RNA through Reduced RNA Flexibility." Journal of Biological Chemistry 292, no. 10 (2017): 4350–57. http://dx.doi.org/10.1074/jbc.m116.770768.

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PANDEY, A. K., D. D. DUBEY, S. N. TIWARI, et al. "Vibrational, electronic properties Pharmaceutical study of 4-Carboxy-3-Fluorophenylboronic acid and ability to form its dimer by using Density functional theory." Romanian Journal of Biophysics 34, no. 4 (2024): 213–36. https://doi.org/10.59277/rjb.2024.4.03.

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The motive of present article is to attract attention on conformational analysis and electronic features of 4-carboxy-3-fluorophenylboronic acid compound via computational method. To comply this, density functional theory (DFT) in combination with Becke 3-parameter Lee–Yang–Parr (B3LYP) functional was considered to identify possible conformers and hence the ground state conformation. The stability reaction of formation quantum theory of atoms in molecules (QTAIM), natural bond analysis (NBO) and thermodynamical stability of dimerization of 4-carboxy-3-fluorophenylboronic acid is computed by us

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Lueck, John D., Ami Mankodi, Maurice S. Swanson, Charles A. Thornton, and Robert T. Dirksen. "Muscle Chloride Channel Dysfunction in Two Mouse Models of Myotonic Dystrophy." Journal of General Physiology 129, no. 1 (2006): 79–94. http://dx.doi.org/10.1085/jgp.200609635.

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Muscle degeneration and myotonia are clinical hallmarks of myotonic dystrophy type 1 (DM1), a multisystemic disorder caused by a CTG repeat expansion in the 3′ untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Transgenic mice engineered to express mRNA with expanded (CUG)250 repeats (HSALR mice) exhibit prominent myotonia and altered splicing of muscle chloride channel gene (Clcn1) transcripts. We used whole-cell patch clamp recordings and nonstationary noise analysis to compare and biophysically characterize the magnitude, kinetics, voltage dependence, and single chann

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