Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 35 for “"DM1"”.
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A NOVEL, RAS-INDEPENDENT ROLE FOR NF1 IN MICROTUBULE DYNAMICS AND DAMAGE REPAIR DICTATES SENSITIVITY TO T-DM1 IN HER2 POSITIVE BREAST CANCER.
… show that NF1 loss sensitizes cancer cells to T-DM1, the first approved Antibody-drug conjugate (ADC) in breast cancer, through a novel, RAS-independent function on microtubular dynamics and repair. NF1 exhibits all biochemical properties of a bona fide MAP and specifically enhances intratubular …
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Development and Evaluation of Novel Anti-HER2 Theranostics Against HER2-Positive Breast Cancer
… therapies, such as pertuzumab, margetuximab, T-DM1, T-DXd, lapatinib, neratinib, pyrotinib, gefitinib, and tucatinib, have been developed. Nonetheless, despite of their improved effectiveness, de novo and acquired resistance to current treatments are very common in BC patients; almost all …
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Development of therapeutic agents for myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder which is caused by a dominantly inherited (CTG·CAG) repeat expansion in the 3’-UTR of the Dystrophia Myotonica Protein Kinase (DMPK) gene on chromosome 19. The genetic basis of DM1 is that DMPK is transcribed into an mRNA …
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I MICRORNA NELLE DISTROFIE MIOTONICHE
… by Steinert and called Steinert’s disease or DM1) has been identified as an autosomal dominant disorder associated with the presence of an abnormal expansion of a CTG trinucleotide repeat in the 3’ untranslated region of the dystrophia myotonica-protein kinase (DMPK) gene on chromosome …
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On oral health in children and adults with myotonic dystrophy
Background: Myotonic Dystrophy type 1 (DM1) is a hereditary neuromuscular multisystem disease with varying clinical expressions and severity. The prevalence worldwide is 5-20/100 000. It is characterized by progressive muscular waste and myotonia. Facial weakness is one of the earliest and most …
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Molecular analysis of myotonic dystrophy type 1 patients with an unusual molecular diagnosis
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults, characterised by multiple tissue involvement and caused by an expansion of a (CTG)n repeat within the 3’-UTR of the DMPK gene (19q13.3). Normal individuals contain between 5 and 35 CTG repeats, whereas the …
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Impacto del control glucémico en la calidad de vida relacionada con la salud en niños y adolescentes con diabetes mellitus tipo 1
El manejo de la Diabetes Mellitus tipo 1 (DM1) en población pediátrica conlleva un gran impacto en la vida diaria del paciente y su familia, pudiendo afectarse diversos componentes de la Calidad de Vida Relacionada con la Salud (CVRS). En función del control glucémico, el tipo de terapia y sensor …
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Proteomic analysis of the function of DMPK, the myotonic dystrophy protein kinase
Myotonic Dystrophy type 1 (DM1), the most common form of adult-onset skeletal muscle dystrophy, is caused by expansion of a CTG repeat sequence embedded in the 3'UTR of a gene which encodes a serine threonine kinase, DMPK. The precise mechanism by which CTG repeat expansion causes the complex …
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Approaches to the assembly of potent therapeutic agents for the treatment of myotonic dystrophy
Myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy, is an incurable neuromuscular disease. DM1 is caused by an expansion of the CTG repeat, whose RNA transcript sequesters the MBNL1 protein into nuclear foci, leading to the misregulation of various pre-mRNAs. …
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ANTIBODY-DRUG CONJUGATES FOR THE TREATMENT OF BREAST CANCER.
… deruxtecan (T-DXd) and trastuzumab emtansine (T-DM1) are anti-HER2 antibody-drug conjugates (ADCs) which have shown robust efficacy for treating breast cancer. For both ADCs, however, we lack effective biomarkers to predict outcomes from pre-treatment samples. Methods: To unveil predictive …
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Design, synthesis, and biological activities of small molecules that target myotonic dystrophy
… repeats (CUGexp) in the 3'-UTR of the DMPK gene (DM1) and CCTG repeats (CCUGexp) in the intron 1 of the ZNP9 gene (DM2). The sequestration of muscleblind-like proteins (MBNL) by CUGexp or CCUGexp causes splicing defects in more than 100 pre-mRNAs, resulting in various disease phenotypes. As such, …
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Advances in myotonic dystrophy type 1 drug discovery through design of novel ligands and mechanism establishment
Myotonic dystrophy type 1 (DM1) is caused by an expanded CUG repeat (CUGexp) that sequesters muscleblind-like 1 protein (MBNL1), a protein that regulates alternative splicing. CUGexp RNA is a validated drug target for this currently untreatable disease. Herein, we describe the development of a …
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Diabete mellito: "una nuova causa di infertilità"
… e Metodi: Sono stati arruolati 34 pazienti con DM1, 55 pazienti con DM2, e 100 soggetti fertili sani controllo normale . I pazienti diabetici sono stati ulteriormente suddivisi in 3 gruppi sulla base del compenso glicometabolico e della durata di malattia. Sono stati eseguiti: esame standard del …
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A role for RNA localization in the human neuromuscular disease myotonic dystrophy
… is caused independently by two alleles: DM1 is characterized by a (CTG)n expansion in the DM kinase (DMPK) gene 3' untranslated region while DM2 has a mutation in a small presumptive RNA binding protein. These analyses were guided by disease characteristics and have provided insights to …
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NF1 AS A REGULATOR OF CYTOSKELETON DYNAMICS AND BIOMARKER FOR DECISION-MAKING IN HER2-POSITIVE BREAST CANCER
… conjugate (ADC) trastuzumab emtansine (T-DM1). This hypersensitivity was specific to the mertansine MT-targeting component (DM1) since it was i) replicated by the naked payload but not the antibody alone; ii) absent with other ADCs (i.e.: trastuzumab deruxtecan [T-DXd]); iii) not …
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Developing potential drugs for the treatment of myotonic dystrophy: from rational design to lead development
… and tetra-nucleotide repeats, CUG and CCUG, in DM1 and DM2, respectively. This key discovery inspired the development of ligands that inhibit MBNL1-RNA complex formation, allowing MBNL1 to resume its biological functions. The background to the DM disease will be given in Chapter 1. In 2009, our …
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Relating structure and function: Discovery of novel inhibitors of myotonic dystrophy
… repeats that cause myotonic dystrophy type 1 (DM1) present a unique opportunity to develop sequence-selective small molecule inhibitors that bind to the DNA or RNA and inhibit RNA synthesis or aberrant RNA-protein interactions directly as well as many downstream effects. The motivation behind …
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Quantitative 31P-MR-Spektroskopie am menschlichen Herzen und Etablierung von SLOOP am Skelettmuskel
… Erkrankungen wie myotoner Dystrophie (DM1) und proximaler myotoner Myopathie (PROMM/DM2) wurden Zusammenhänge zwischen Krankheitsdauer, Krankheitsverlauf, Muskelschwäche und dem kardialen und skelettmuskulären Energiestoffwechsel untersucht, um zusätzliche Informationen zum Verständnis …
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Global analysis of mRNA decay rates and RNA-binding specificity reveals novel roles for CUGBP1 and PARN deadenylase in muscle cells
Type I Myotonic Dystrophy (DM1) is characterized by myotonia, cardiac conduction defects, muscle wasting, and insulin resistance. In patient muscle cells expression and function of the RNA-binding proteins CUGBP1 and MBNL1 are disrupted, resulting in altered mRNA metabolism at the levels of …
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Understanding the pathogenesis of myotonic dystrophy type 1
… were used to generate cell-culture models of DM1, in both human and murine cells, which mimicked the nuclear foci formation and MBNL1 co-localisation seen in patient cells. Expression of exogenous MBNL1/GFP fusion protein in this model resulted in an increase in the size of foci, indicating …
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