Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/d41586-023-02818-9 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency.
Commun Med (Lond)
January 2025
Rare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Background: Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease. There are no available targeted therapies for MSD.
Methods: We engineered a viral vector (AAV9/SUMF1) to deliver working copies of the SUMF1 gene and tested the vector in Sumf1 knock out mice that generally display a median lifespan of 10 days.
Machine learning meta-analysis identifies individual characteristics moderating cognitive intervention efficacy for anxiety and depression symptoms.
NPJ Digit Med
January 2025
School of Psychological Sciences, University of Haifa, Haifa, Israel.
Cognitive training is a promising intervention for psychological distress; however, its effectiveness has yielded inconsistent outcomes across studies. This research is a pre-registered individual-level meta-analysis to identify factors contributing to cognitive training efficacy for anxiety and depression symptoms. Machine learning methods, alongside traditional statistical approaches, were employed to analyze 22 datasets with 1544 participants who underwent working memory training, attention bias modification, interpretation bias modification, or inhibitory control training.
View Article and Find Full Text PDFPost-infectious acute cerebellar ataxia in a young adult.
BMJ Case Rep
January 2025
Institute of Neurological Sciences, Prince of Wales Hospital and the University of New South Wales, Randwick, Sydney, New South Wales, Australia
Acute cerebellar ataxia is a clinical syndrome that involves loss of balance and coordination, typically within less than 72 hours. It usually presents in children and rarely affect adults. A woman in her early 20s presented with acute onset dizziness, vertigo, truncal ataxia and dysarthria 2 weeks following an acute viral illness.
View Article and Find Full Text PDFLeveraging Saccharomyces cerevisiae for ADAR research: From high-yield purification to high-throughput screening and therapeutic applications.
Methods Enzymol
January 2025
Life Science, Bar Ilan University, Ramat Gan, Israel. Electronic address:
Saccharomyces cerevisiae, a model eukaryotic organism with a rich history in research and industry, has become a pivotal tool for studying Adenosine Deaminase Acting on RNA (ADAR) enzymes despite lacking these enzymes endogenously. This chapter reviews the diverse methodologies harnessed using yeast to elucidate ADAR structure and function, emphasizing its role in advancing our understanding of RNA editing. Initially, Saccharomyces cerevisiae was instrumental in the high-yield purification of ADARs, addressing challenges associated with enzyme stability and activity in other systems.
View Article and Find Full Text PDFIntroduction: In recent years, intravitreal injections (IVT) of vascular endothelial growth factor (VEGF) inhibitors have become the standard of care for several macular disorders. Frequently, the therapeutic course requires numerous injections, posing a burden on patients. Non-adherence to treatment may result in reduced visual outcomes, therefore understanding and addressing the underlying causes is imperative.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!