0000000000736907

AUTHOR

Arturo Lopez-castel

showing 2 related works from this author

Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers.

2016

Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease caused by expansion of a CTG microsatellite in the 3' untranslated region of the DMPK gene. Despite characteristic muscular, cardiac, and neuropsychological symptoms, CTG trinucleotide repeats are unstable both in the somatic and germinal lines, making the age of onset, clinical presentation, and disease severity very variable. A molecular biomarker to stratify patients and to follow disease progression is, thus, an unmet medical need. Looking for a novel biomarker, and given that specific miRNAs have been found to be misregulated in DM1 heart and muscle tissues, we profiled the expression of 175 known serum miRNAs in …

0301 basic medicineUntranslated regionMalePathologyPhysiologylcsh:MedicineArtificial Gene Amplification and ExtensionDiseaseBioinformaticsBiochemistryPolymerase Chain Reaction0302 clinical medicineTrinucleotide RepeatsMedicine and Health SciencesMyotonic Dystrophylcsh:ScienceMusculoskeletal SystemMultidisciplinaryMusclesHematologyMiddle Aged3. Good healthBody FluidsNucleic acidsBlotting SouthernBloodGenetic DiseasesBiomarker (medicine)AnatomyResearch ArticleAdultmusculoskeletal diseasesmedicine.medical_specialtyBiologyResearch and Analysis MethodsMyotonic dystrophy03 medical and health sciencesExtraction techniquesmicroRNAmedicineGeneticsHumansNon-coding RNAMolecular Biology TechniquesGeneMolecular BiologyClinical GeneticsBiology and life sciencesGene Expression Profilinglcsh:Rmedicine.diseaseRNA extractionGene regulationGene expression profilingMicroRNAs030104 developmental biologySkeletal MusclesRNAlcsh:QGene expressionAge of onset030217 neurology & neurosurgeryBiomarkersPLoS ONE
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Myotonic dystrophy type 1 drug development: A pipeline toward the market

2021

Highlights • Myotonic dystrophy, a neuromuscular disease, affects at least around half a million people worldwide. • Close to two dozen preclinical and clinical drug development programs active. • Drugs encompass new chemical entities, repurposing, oligonucleotide, and gene therapy. • Tideglusib, mexiletine, and metformin are close to reaching marketing authorization.

0301 basic medicineDrugmedia_common.quotation_subjectMyotonic dystrophyDiseaseBioinformaticsMarketing authorizationMyotonic dystrophy03 medical and health sciences0302 clinical medicineGene therapyDrug DevelopmentDrug DiscoveryMedicineAnimalsHumansAntisense oligonucleotideRepurposingmedia_commonPharmacologybusiness.industryRepurposing drugmedicine.diseaseClinical trialClinical trialDrug repositioning030104 developmental biologyDrug development030220 oncology & carcinogenesisbusinessPost-Screen (Grey)Drug Discovery Today
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