Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy.


: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 (MBNL) proteins in the nucleus and global dysregulation of the processing, localization and stability of MBNL target RNAs. STR expansion RNAs also form phase-separated gel-like droplets both in vitro and in transiently transfected cells, implicating RNA-RNA multivalent interactions as drivers of RNA foci formation. Importantly, the nucleation and growth of these nuclear foci and transcript misprocessing are reversible processes and thus amenable to therapeutic intervention. In this review, we provide an overview of potential DM1 and DM2 pathomechanisms, followed by a discussion of MBNL functions in RNA processing and how multivalent interactions between expanded STR RNAs and RNA-binding proteins (RBPs) promote RNA foci assembly.


Int J Mol Sci


Sznajder ŁJ,Swanson MS




Has Abstract


2019-07-09 00:00:00










  • Implications of a Soy-Based Diet for Animal Models.

    abstract::The use of animal models in fundamental or pre-clinical research remains an absolute requirement for understanding human pathologies and developing new drugs. In order to transpose these results into clinical practice, many parameters must be taken into account to limit bias. Attention has recently been focused on the...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Dhot J,Prat V,Ferron M,Aillerie V,Erraud A,Rozec B,Waard M,Gauthier C,Lauzier B

    更新日期:2021-01-14 00:00:00

  • The Status of Bile Acids and Farnesoid X Receptor in Brain and Liver of Rats with Thioacetamide-Induced Acute Liver Failure.

    abstract::Acute liver failure (ALF) leads to neurological symptoms defined as hepatic encephalopathy (HE). Although accumulation of ammonia and neuroinflammation are generally accepted as main contributors to HE pathomechanism, a buildup of bile acids (BA) in the blood is a frequent component of liver injury in HE patients. Rec...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Czarnecka AM,Milewski K,Albrecht J,Zielińska M

    更新日期:2020-10-20 00:00:00

  • General and Target-Specific DExD/H RNA Helicases in Eukaryotic Translation Initiation.

    abstract::DExD (DDX)- and DExH (DHX)-box RNA helicases, named after their Asp-Glu-x-Asp/His motifs, are integral to almost all RNA metabolic processes in eukaryotic cells. They play myriad roles in processes ranging from transcription and mRNA-protein complex remodeling, to RNA decay and translation. This last facet, translatio...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章,评审


    authors: Shen L,Pelletier J

    更新日期:2020-06-20 00:00:00

  • Myostatin Inhibits Vascular Smooth Muscle Cell Proliferation and Local 14q32 microRNA Expression, But Not Systemic Inflammation or Restenosis.

    abstract::Myostatin is a negative regulator of muscle cell growth and proliferation. Furthermore, myostatin directly affects the expression of 14q32 microRNAs by binding the 14q32 locus. Direct inhibition of 14q32 microRNA miR-495-3p decreased postinterventional restenosis via inhibition of both vascular smooth muscle cell (VSM...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Goossens EAC,de Vries MR,Jukema JW,Quax PHA,Nossent AY

    更新日期:2020-05-15 00:00:00

  • Impact of Methods on the Measurement of mRNA Turnover.

    abstract::The turnover of the RNA molecules is determined by the rates of transcription and RNA degradation. Several methods have been developed to study RNA turnover since the beginnings of molecular biology. Here we summarize the main methods to measure RNA half-life: transcription inhibition, gene control, and metabolic labe...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章,评审


    authors: Wada T,Becskei A

    更新日期:2017-12-15 00:00:00

  • Redox Homeostasis and Metabolism in Cancer: A Complex Mechanism and Potential Targeted Therapeutics.

    abstract::Reactive Oxygen Species or "ROS" encompass several molecules derived from oxygen that can oxidize other molecules and subsequently transition rapidly between species. The key roles of ROS in biological processes are cell signaling, biosynthetic processes, and host defense. In cancer cells, increased ROS production and...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章,评审


    authors: Ghoneum A,Abdulfattah AY,Warren BO,Shu J,Said N

    更新日期:2020-04-28 00:00:00

  • Protective Effects of Peroxiredoxin 4 (PRDX4) on Cholestatic Liver Injury.

    abstract::Accumulating evidence indicates that oxidative stress plays a critical role in initiating the progression of inflammatory and fibrotic liver diseases, including cholestatic hepatitis. Peroxiredoxin 4 (PRDX4) is a secretory antioxidase that protects against oxidative damage by scavenging reactive oxygen species (ROS) i...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Zhang J,Guo X,Hamada T,Yokoyama S,Nakamura Y,Zheng J,Kurose N,Ishigaki Y,Uramoto H,Tanimoto A,Yamada S

    更新日期:2018-08-24 00:00:00

  • Prediction of a new ligand-binding site for type 2 motif based on the crystal structure of ALG-2 by dry and wet approaches.

    abstract::ALG-2 is a penta-EF-hand Ca(2+)-binding protein and interacts with a variety of intracellular proteins. Two types of ALG-2-binding motifs have been determined: type 1, PXYPXnYP (X, variable; n = 4), in ALIX and PLSCR3; type 2, PXPGF, in Sec31A and PLSCR3. The previously solved X-ray crystal structure of the complex be...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Takahashi T,Suzuki H,Inuzuka T,Shibata H,Maki M

    更新日期:2012-01-01 00:00:00

  • Sweet Immunity: Inulin Boosts Resistance of Lettuce (Lactuca sativa) against Grey Mold (Botrytis cinerea) in an Ethylene-Dependent Manner.

    abstract::The concept of "Sweet Immunity" postulates that sugar metabolism and signaling influence plant immune networks. In this study, we tested the potential of commercially available inulin-type fructans to limit disease symptoms caused by Botrytis cinerea in lettuce. Spraying mature lettuce leaves, with inulin-type fructan...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Tarkowski ŁP,Van de Poel B,Höfte M,Van den Ende W

    更新日期:2019-02-28 00:00:00

  • Stimuli-Responsive Materials for Tissue Engineering and Drug Delivery.

    abstract::Smart or stimuli-responsive materials are an emerging class of materials used for tissue engineering and drug delivery. A variety of stimuli (including temperature, pH, redox-state, light, and magnet fields) are being investigated for their potential to change a material's properties, interactions, structure, and/or d...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章,评审


    authors: Municoy S,Álvarez Echazú MI,Antezana PE,Galdopórpora JM,Olivetti C,Mebert AM,Foglia ML,Tuttolomondo MV,Alvarez GS,Hardy JG,Desimone MF

    更新日期:2020-07-02 00:00:00

  • Overexpression of ThMYC4E Enhances Anthocyanin Biosynthesis in Common Wheat.

    abstract::The basic helix-loop helix (bHLH) transcription factor has been inferred to play an important role in blue and purple grain traits in common wheat, but to date, its overexpression has not been reported. In this study, the bHLH transcription factor ThMYC4E, the candidate gene controlling the blue grain trait from Th. P...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Zhao S,Xi X,Zong Y,Li S,Li Y,Cao D,Liu B

    更新日期:2019-12-24 00:00:00

  • Dietary Supplementation with Lactobacillus casei Alleviates Lipopolysaccharide-Induced Liver Injury in a Porcine Model.

    abstract::This study aims to determine whether Lactobacillus casei (L. casei) could relieve liver injury in piglets challenged with lipopolysaccharide (LPS). Piglets were randomly allocated into one of the three groups: control, LPS, and L. casei. The control and LPS groups were fed a corn- and soybean meal-based diet, whereas ...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Zhao D,Wu T,Yi D,Wang L,Li P,Zhang J,Hou Y,Wu G

    更新日期:2017-11-26 00:00:00

  • The Role of the RNA-RNA Interactome in the Hepatitis C Virus Life Cycle.

    abstract::RNA virus genomes are multifunctional entities endowed with conserved structural elements that control translation, replication and encapsidation, among other processes. The preservation of these structural RNA elements constraints the genomic sequence variability. The hepatitis C virus (HCV) genome is a positive, sin...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章,评审


    authors: Romero-López C,Berzal-Herranz A

    更新日期:2020-02-21 00:00:00

  • Regulation of Proliferation, Differentiation and Functions of Osteoblasts by Runx2.

    abstract::Runx2 is essential for osteoblast differentiation and chondrocyte maturation. During osteoblast differentiation, Runx2 is weakly expressed in uncommitted mesenchymal cells, and its expression is upregulated in preosteoblasts, reaches the maximal level in immature osteoblasts, and is down-regulated in mature osteoblast...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章,评审


    authors: Komori T

    更新日期:2019-04-04 00:00:00

  • The Impact of Human Lipoaspirate and Adipose Tissue-Derived Stem Cells Contact Culture on Breast Cancer Cells: Implications in Breast Reconstruction.

    abstract:BACKGROUND:Autologous fat transfer in the form of lipoaspirates for the reconstruction of the breast after breast cancer surgery is a commonly used procedure in plastic surgery. However, concerns regarding the oncologic risk of nutrient-rich fat tissue are widely debated. Previous studies have primarily focused on stud...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Ejaz A,Yang KS,Venkatesh KP,Chinnapaka S,Kokai LE,Rubin JP

    更新日期:2020-12-01 00:00:00

  • Transcriptome Analysis Identifies Candidate Genes and Functional Pathways Controlling the Response of Two Contrasting Barley Varieties to Powdery Mildew Infection.

    abstract::Powdery mildew caused by Blumeria graminis f. sp. hordei (Bgh) is one of the most serious diseases in barley. The numerous barley varieties across China provide valuable genetic resources to screen the resistant germplasm and to discover the primary genes of resistance to powdery mildew. In this study, Chinese barley ...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Li Y,Guo G,Zhou L,Chen Y,Zong Y,Huang J,Lu R,Liu C

    更新日期:2019-12-24 00:00:00

  • Novel Crosstalks between Circadian Clock and Jasmonic Acid Pathway Finely Coordinate the Tradeoff among Plant Growth, Senescence and Defense.

    abstract::Circadian clock not only functions as a cellular time-keeping mechanism, but also acts as a master regulator to coordinate the tradeoff between plant growth and defense in higher plants by timing a few kinds of phytohormone biosynthesis and signaling, including jasmonic acid (JA). Notably, circadian clock and JA pathw...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章,评审


    authors: Zhang Y,Bo C,Wang L

    更新日期:2019-10-23 00:00:00

  • Vaccinations for Colorectal Cancer: Progress, Strategies, and Novel Adjuvants.

    abstract::Although cancer is a leading cause of death, significant breakthroughs have been made in its treatment in recent years. In particular, increasingly effective cancer vaccines are being developed, including some for colorectal cancer. There are also currently a variety of compounds that can act as adjuvants, such as sig...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章,评审


    authors: Jiang S,Good D,Wei MQ

    更新日期:2019-07-11 00:00:00

  • Topical Plant Polyphenols Prevent Type I Interferon Signaling in the Skin and Suppress Contact Hypersensitivity.

    abstract::Human keratinocytes were recently shown to respond to anti-EGFR (epidermal growth factor receptor) drugs with activation of an interferon-κ-driven autocrine loop, leading to enhanced expression of innate antiviral effectors and of the pro-inflammatory chemokines CXCL10 (C-X-C motif chemokine 10) and CCL2 (C-C motif li...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Carbone ML,Lulli D,Passarelli F,Pastore S

    更新日期:2018-09-06 00:00:00

  • Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

    abstract::Prostate cancer (PrCa) ranks among the top five cancers for both incidence and mortality worldwide. A significant proportion of PrCa susceptibility has been attributed to inherited predisposition, with 10-20% of cases expected to occur in a hereditary/familial context. Advances in DNA sequencing technologies have unco...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章,评审


    authors: Brandão A,Paulo P,Teixeira MR

    更新日期:2020-07-16 00:00:00

  • Different Actions of Intracellular Zinc Transporters ZIP7 and ZIP13 Are Essential for Dermal Development.

    abstract::Two mesenchymal zinc transporters, ZIP7 and ZIP13, play critical roles in dermal development. ZIP7 and ZIP13 are the closest among the conserved mammalian zinc transporters. However, whether their functions are complementary remains a controversial issue. In the present study, we found that the expression of ZIP13, bu...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Lee MG,Bin BH

    更新日期:2019-08-13 00:00:00

  • Molecular Predictors of Complete Response Following Neoadjuvant Chemotherapy in Urothelial Carcinoma of the Bladder and Upper Tracts.

    abstract::Urothelial carcinoma of the bladder (UCB) and upper tracts (UTUC) is often regarded as one entity and is managed generally with similar principles. While neoadjuvant chemotherapy (NAC) followed by radical cystectomy (RC) is an established standard of care in UCB, strong evidence for a similar approach is lacking in UT...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章,评审


    authors: Tse J,Ghandour R,Singla N,Lotan Y

    更新日期:2019-02-13 00:00:00

  • Transcriptome Sequencing Reveals the Differentially Expressed lncRNAs and mRNAs Involved in Cryoinjuries in Frozen-Thawed Giant Panda (Ailuropoda melanoleuca) Sperm.

    abstract::Sperm cryopreservation and artificial insemination are important methods for giant panda breeding and preservation of extant genetic diversity. Lower conception rates limit the use of artificial insemination with frozen-thawed giant panda sperm, due to the lack of understanding of the cryodamaging or cryoinjuring mech...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Ran MX,Li Y,Zhang Y,Liang K,Ren YN,Zhang M,Zhou GB,Zhou YM,Wu K,Wang CD,Huang Y,Luo B,Qazi IH,Zhang HM,Zeng CJ

    更新日期:2018-10-08 00:00:00

  • Proteomic Differences in Feline Fibrosarcomas Grown Using Doxorubicin-Sensitive and -Resistant Cell Lines in the Chick Embryo Model.

    abstract::Proteomic analyses are rapid and powerful tools that are used to increase the understanding of cancer pathogenesis, discover cancer biomarkers and predictive markers, and select and monitor novel targets for cancer therapy. Feline injection-site sarcomas (FISS) are aggressive skin tumours with high recurrence rates, d...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Zabielska-Koczywąs K,Michalak K,Wojtalewicz A,Winiarczyk M,Adaszek Ł,Winiarczyk S,Lechowski R

    更新日期:2018-02-14 00:00:00

  • Salicylic Acid Signals Plant Defence against Cadmium Toxicity.

    abstract::Salicylic acid (SA), as an enigmatic signalling molecule in plants, has been intensively studied to elucidate its role in defence against biotic and abiotic stresses. This review focuses on recent research on the role of the SA signalling pathway in regulating cadmium (Cd) tolerance in plants under various SA exposure...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章,评审


    authors: Guo B,Liu C,Liang Y,Li N,Fu Q

    更新日期:2019-06-18 00:00:00

  • Correction: G. Bradley Schaefer. Clinical Genetic Aspects of ASD Spectrum Disorders. Int. J. Mol. Sci. 2016, 17, 180.

    abstract::The author wishes to make a change to the published paper [1].[...]. ...

    journal_title:International journal of molecular sciences

    pub_type: 已发布勘误


    authors: Schaefer GB

    更新日期:2016-09-19 00:00:00

  • Somatic Mutation Profiling in Premalignant Lesions of Vulvar Squamous Cell Carcinoma.

    abstract::Vulvar squamous cell carcinoma (VSCC) originates from the progression of either a high-grade squamous intraepithelial lesion (HSIL) or differentiated-type vulvar intraepithelial neoplasia (dVIN), often in a background of lichen sclerosus (LS). The mechanisms leading to the progression of these premalignant lesions to ...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Zięba S,Pouwer AW,Kowalik A,Zalewski K,Rusetska N,Bakuła-Zalewska E,Kopczyński J,Pijnenborg JMA,de Hullu JA,Kowalewska M

    更新日期:2020-07-10 00:00:00

  • Effects of genetically engineered stem cells expressing cytosine deaminase and interferon-beta or carboxyl esterase on the growth of LNCaP rrostate cancer cells.

    abstract::The risk of prostate cancer has been increasing in men by degrees. To develop a new prostate cancer therapy, we used a stem cell-derived gene directed prodrug enzyme system using human neural stem cells (hNSCs) that have a tumor-tropic effect. These hNSCs were transduced with the therapeutic genes for bacterial cytosi...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Yi BR,Hwang KA,Kim YB,Kim SU,Choi KC

    更新日期:2012-09-28 00:00:00

  • Application of ionic liquids in high performance reversed-phase chromatography.

    abstract::Ionic liquids, considered "green" chemicals, are widely used in many areas of analytical chemistry due to their unique properties. Recently, ionic liquids have been used as a kind of novel additive in separation and combined with silica to synthesize new stationary phase as separation media. This review will focus on ...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章,评审


    authors: Wang Y,Tian M,Bi W,Row KH

    更新日期:2009-06-04 00:00:00

  • SUMOylation Is Required for ERK5 Nuclear Translocation and ERK5-Mediated Cancer Cell Proliferation.

    abstract::The MAP kinase ERK5 contains an N-terminal kinase domain and a unique C-terminal tail including a nuclear localization signal and a transcriptional activation domain. ERK5 is activated in response to growth factors and stresses and regulates transcription at the nucleus by either phosphorylation or interaction with tr...

    journal_title:International journal of molecular sciences

    pub_type: 杂志文章


    authors: Erazo T,Espinosa-Gil S,Diéguez-Martínez N,Gómez N,Lizcano JM

    更新日期:2020-03-23 00:00:00