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Monthly #apaperaday wrap-up: April 2024

Prof. Annemieke Aartsma-Rus is taking on a challenge by reading and commenting on a paper a day. She shares her insights, findings and thoughts via her @oligogirl Twitter account. Each month, a curated selection of the relevant papers for Duchenne and Becker muscular dystrophy are presented by the World Duchenne Organization. See below the overview of April 2024.

 

Must reads

  • Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy > Read more

Interesting papers

  • Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1–2 duplications based on long-read sequencing > Read more
  • Pharmacological inhibition of HDAC6 improves muscle phenotypes in dystrophin-deficient mice by downregulating TGF-β via Smad3 acetylation > Read more

Additional reading

  • Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies > Read more
  • Megabase-Scale Transgene De-Duplication to Generate a Functional Single-Copy Full-Length Humanized DMD Mouse Model > Read more
  • Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy > Read more
  • De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy > Read more
  • Evolving Role of Viltolarsen for Treatment of Duchenne Muscular Dystrophy > Read more
  • Diversity of mutations in the dystrophin gene and details of muscular lesions in porcine dystrophinopathies > Read more
  • Regulation of Chemokines and Cytokines by Histone Deacetylases and an Update on Histone Decetylase Inhibitors in Human Diseases > Read more

 

We are grateful for prof. Aartsma-Rus for allowing us to share her daily recaps. Follow @oligogirl on Twitter to stay on top of the latest #apaperaday tweets, or subscribe to the WDO Newsletter to receive the monthly must-reads in your inbox.

 

About professor Annemieke Aartsma-Rus

Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center. Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).

Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy. In addition, in collaborative efforts she aims to bridge the gap between different stakeholders (patients, academics, regulators and industry) involved in drug development for rare diseases.

In 2013 she was elected a member of the junior section of the Dutch Royal Academy of Sciences (KNAW), which consists of what are considered the top 50 scientists in the Netherlands under 45. From 2015 to 2022, she was selected as the most influential scientist in Duchenne muscular dystrophy by Expertscape.