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Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics

30 September 24 Articles ، Annemieke Aartsma-Rus ، Rob W.J. Collin ، Ype Elgersma Individualized ASO therapy for brain diseases ، Dutch Center for RNA Therapeutics (DCRT) ASO development ، Antisense oligonucleotide treatments for genetic disorders ، ASO therapy for rare neurological and eye diseases ، Personalized RNA-based treatments for patients ، Non-profit ASO drug development initiatives ، Global collaboration in ASO therapies
Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics
This article explores how the Dutch Center for RNA Therapeutics (DCRT) is advancing individualized antisense oligonucleotide (ASO) therapies for rare brain and eye diseases.
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Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy

30 September 24 Articles ، Heike Kolbel ، Tobias Ruck Thrombospondin-4 as a CSF biomarker for SMA ، Cerebrospinal fluid biomarkers in pediatric SMA ، Nusinersen therapy response tracking in SMA ، Proteomic analysis of CSF in spinal muscular atrophy ، TSP4 levels in symptomatic and pre-symptomatic SMA ، Biomarker validation for SMA therapy monitoring ، Enzyme-linked immunosorbent assay (ELISA) for TSP4
Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy
This study explores Thrombospondin-4 as a cerebrospinal fluid biomarker for therapy response in pediatric SMA patients, highlighting its potential for treatment monitoring.
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Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

29 September 24 Articles ، Jin-Hong Shin Early diagnosis of Duchenne muscular dystrophy ، Presymptomatic detection of DMD in infants ، Next-Generation Sequencing (NGS) for DMD diagnosis ، Chromosomal Microarray Analysis (CMA) in DMD ، Genetic testing for muscular dystrophy in newborns ، Exon 45–50 deletion in dystrophin gene ، Elevated creatine kinase (CK) and early DMD detection
Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report
This case report highlights the early diagnosis of Duchenne muscular dystrophy (DMD) in a presymptomatic infant using NGS and CMA, emphasizing the benefits of genetic testing.
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Effectiveness of Nusinersen in Adolescents and Adults with Spinal Muscular Atrophy: Systematic Review and Meta‑analysis

29 September 24 Articles ، Tim Hagenacker Nusinersen effectiveness in SMA patients ، Meta-analysis on Nusinersen in adolescents and adults ، SMA treatment outcomes with Nusinersen ، Motor function improvement with Nusinersen ، HFMSE, RULM, and 6MWT scores in SMA ، Nusinersen clinical trials and long-term effects ، Spinal muscular atrophy therapy for adults
Effectiveness of Nusinersen in Adolescents and Adults with Spinal Muscular Atrophy: Systematic Review and Meta‑analysis
This study evaluates the effectiveness of Nusinersen in adolescents and adults with SMA, highlighting improvements in motor function based on HFMSE, RULM, and 6MWT scores.
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Chemistry, structure and function of approved oligonucleotide therapeutics

27 September 24 Articles ، Muthiah Manoharan Oligonucleotide therapeutics chemistry and function ، Antisense oligonucleotides and RNA interference ، Approved oligonucleotide drugs for genetic diseases ، Splice-switching oligonucleotides and their mechanism ، LNP and GalNAc delivery systems in RNA therapy ، MOE-RNA and phosphorothioate modifications in ASOs ، Future of gene silencing therapies with oligonucleotides
Chemistry, structure and function of approved oligonucleotide therapeutics
This article reviews the chemistry, structure, and function of oligonucleotide therapeutics, highlighting their modifications, delivery methods, and clinical successes.
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Ubiquitylomics: An Emerging Approach for Profiling Protein Ubiquitylation in Skeletal Muscle

17 September 24 Articles ، Yu-Chiang Lai Ubiquitylomics in skeletal muscle research ، Protein ubiquitylation and muscle biology ، Mass spectrometry for ubiquitylated proteins ، Post-translational modifications in muscle atrophy ، Advanced proteomics in skeletal muscle studies ، Ubiquitylation in muscle disease and therapy ، Muscle protein turnover and ubiquitin pathways
Ubiquitylomics: An Emerging Approach for Profiling Protein Ubiquitylation in Skeletal Muscle
This article reviews ubiquitylomics, a novel approach for studying protein ubiquitylation in skeletal muscle, highlighting its role in muscle health, disease, and therapeutics.
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Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy

17 September 24 Articles ، Haluk Topaloglu Exon skipping trials in Duchenne muscular dystrophy ، FDA-approved exon skipping therapies for DMD ، Eteplirsen, Golodirsen, and Viltolarsen clinical trials ، AON-based therapies for dystrophin restoration ، Challenges in exon skipping therapy delivery ، Long-term effects of exon skipping in DMD ، New exon skipping drugs for Becker muscular dystrophy
Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy
This article reviews current exon skipping trials for Duchenne muscular dystrophy, focusing on FDA-approved AON therapies, challenges, and future research directions.
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Knockdown of CDR1as Decreases Differentiation of Goat Skeletal Muscle Satellite Cells via Upregulating miR-27a-3p to Inhibit ANGPT1

17 September 24 Articles ، Hongping Zhang CDR1as knockdown in muscle differentiation ، miR-27a-3p and ANGPT1 regulation ، Satellite cell proliferation in skeletal muscle ، RNA sequencing in muscle cell research ، Circular RNA regulation in myogenesis ، MyoD expression and satellite cell differentiation ، Role of non-coding RNAs in muscle growth
Knockdown of CDR1as Decreases Differentiation of Goat Skeletal Muscle Satellite Cells via Upregulating miR-27a-3p to Inhibit ANGPT1
This study reveals that CDR1as knockdown in goat skeletal muscle satellite cells increases miR-27a-3p expression, leading to ANGPT1 inhibition and reduced differentiation.
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Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot

17 September 24 Articles ، Toshifumi Yokota Antisense therapy for DMD mutations ، Gene therapy in Duchenne muscular dystrophy ، Exon skipping treatments for DMD ، AAV vectors in gene therapy for DMD ، Microdystrophin therapy for Duchenne patients ، Targeting exon 2–22 mutations in DMD ، N-terminal hotspot mutations in dystrophin gene
Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot
This article reviews antisense and gene therapy strategies for DMD mutations in the exon 2–22 region, focusing on exon skipping, AAV vectors, and microdystrophin therapy.
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Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders

16 September 24 Articles ، Masahisa Katsuno Nucleic acid therapy for SBMA ، Antisense oligonucleotide treatment for SBMA ، RNA interference in spinal and bulbar muscular atrophy ، Gene therapy for motor neuron disorders ، Polyglutamine diseases and nucleic acid therapeutics ، Targeting androgen receptor gene mutations ، siRNA and lipid nanoparticle delivery for SBMA
Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders
This review discusses nucleic acid-based therapies for SBMA, including ASOs, siRNAs, and gene therapy, focusing on their potential to slow disease progression and improve muscle function.
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Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides

15 September 24 Articles ، Annemieke Aartsma-Rus N-of-1 antisense oligonucleotide therapy ، Exon skipping ASO design guidelines ، Personalized genetic therapy with ASOs ، Preclinical efficacy testing of ASOs ، Milasen and patient-specific ASO development ، Splice modulation in rare genetic diseases ، Regulatory challenges in N-of-1 therapies
Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides
This article outlines standardized guidelines for developing N-of-1 exon skipping antisense oligonucleotides, emphasizing preclinical testing, ASO design, and data sharing.
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Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms

15 September 24 Articles ، Annemieke Aartsma-Rus Antisense oligonucleotide design strategies ، Splice modulation in exon skipping therapy ، Optimized AONs for Duchenne muscular dystrophy ، AON efficiency factors in gene therapy ، RNA secondary structure prediction for AONs ، Thermodynamics of antisense oligonucleotides ، Exonic splicing enhancers and Tra2β targeting
Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms
This study presents optimized guidelines for designing antisense oligonucleotides, analyzing their sequence composition, binding energy, and role in exon skipping therapies.
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Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases

15 September 24 Articles ، Hanns Lochmuller ، Theodore Perkins GNE myopathy prevalence estimation ، Population genetic databases and rare diseases ، Underdiagnosed neuromuscular disorders ، Hardy-Weinberg equilibrium in genetic studies ، GNE gene mutations and muscle atrophy ، Regional prevalence differences in GNE myopathy ، Genetic screening for neuromuscular diseases
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases
This research estimates the global prevalence of GNE myopathy using allele frequencies from population genetic databases, highlighting potential underdiagnosis and regional differences.
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Open-label, Blinded, and Double-Blind

11 September 24 Useful information ، Terminology Open-label vs blinded clinical trials ، Single-blind vs double-blind study design ، Types of clinical trial methodologies ، Double-blind study as the gold standard ، Reducing bias in clinical research ، How blinding improves clinical trial accuracy ، Placebo-controlled studies in medicine
This article explains the key differences between open-label, single-blind, and double-blind clinical trial designs, highlighting their impact on research reliability and bias reduction.
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Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

10 September 24 Articles ، Francesco Muntoni Eteplirsen safety in young boys with DMD ، Exon 51 skipping therapy for Duchenne ، Tolerability and pharmacokinetics of eteplirsen ، DMD exon-skipping treatments ، Pediatric clinical trials in Duchenne dystrophy ، Eteplirsen early intervention studies ، Morpholino oligomer therapy for DMD
Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping
This open-label trial assesses eteplirsen’s safety in young boys with DMD, confirming its tolerability and predictable pharmacokinetics, but further efficacy studies are needed.
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