Publications by authors named "A Quattrini"
Objective: In autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) disease, severity and age of onset vary greatly, hindering to objectively measure and predict clinical progression. Thickening of the retinal nerve fiber layer is distinctive of ARSACS patients, as assessed by optical coherence tomography, whereas conventional brain magnetic resonance imaging findings include both supratentorial and infratentorial changes. Because longitudinal imaging studies in ARSACS patients are not available to define these changes as biomarkers of disease progression, we aimed to address this issue in the ARSACS mouse model.
View Article and Find Full Text PDFThe distributions of anthozoan corals are undercharacterized due to their wide bathymetric ranges, occurrences in remote locales, and difficulties of identification from morphology alone. Environmental DNA (eDNA) sequencing promises to be a noninvasive strategy to complement conventional approaches for mapping and monitoring the distribution and biodiversity of coral communities. Primers for eDNA metabarcoding have been designed to amplify nuclear and mitochondrial DNA barcodes in shallow scleractinians and mitochondrial in deep-sea octocorals.
View Article and Find Full Text PDFTAR DNA-binding protein 43 (TDP-43) is a ubiquitously expressed DNA/RNA binding protein critical for regulating gene expression, including transcription, splicing, mRNA stability, and protein translation. Aggregation of pathological TDP-43 proteins in the cytoplasm of neurons and glial cells appears to be a common feature of amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases such as frontotemporal dementia (FTD), contributing to motor neuron degeneration and clinical symptoms. Downregulation of TDP-43 expression to prevent or reduce the formation of pathological aggregates is a potential therapeutic approach for treating TDP-43-related diseases.
View Article and Find Full Text PDFArticle Synopsis
- Evidence shows that human-induced waste significantly impacts deep-ocean ecosystems, with debris being found even in remote areas during initial explorations.
- A study in the tropical Atlantic and Caribbean Sea recorded various types of marine debris, including plastic, metal, and glass, at depths ranging from 250 to over 6000 meters, observed using submersibles.
- The discovery of 139 debris items—such as a ladder, clothing, and single-use packaging—highlights the severity of pollution in these deep waters and underscores the importance of understanding its effects on ocean sustainability.
Article Synopsis
- The study examines how population connectivity and genetic structure impact the resilience of the cold-water coral species Desmophyllum pertusum in the face of human activities.
- By analyzing DNA from individuals across nine sites, the research found significant genetic differentiation between populations in the southeastern U.S. and those in New England and the Gulf of Mexico.
- The results suggest high connectivity within the southeastern sites, while areas like Norfolk Canyon and the Gulf of Mexico show low differentiation and potential gene flow, emphasizing the need for larger sample sizes to better understand these patterns.