Publications by authors named "L Restelli"
DNA methylation analysis based on supervised machine learning algorithms with static reference data, allowing diagnostic tumour typing with unprecedented precision, has quickly become a new standard of care. Whereas genome-wide diagnostic methylation profiling is mostly performed on microarrays, an increasing number of institutions additionally employ nanopore sequencing as a faster alternative. In addition, methylation-specific parallel sequencing can generate methylation and genomic copy number data.
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- Alzheimer's disease (AD) is a leading neurodegenerative disorder often associated with aging, where increased production of amyloid-beta (Aβ) is crucial to its development.
- BACE1, the enzyme responsible for triggering Aβ formation, is influenced by neuronal activity, though the specific mechanisms involved were not fully understood until now.
- This research identifies Casein Kinase 2 as a key player in regulating BACE1 expression through the phosphorylation of eIF4B in neurons, suggesting a link between brain activity and Aβ production, which could lead to new treatment strategies for AD.
Random errors in protein synthesis are prevalent and ubiquitous, yet their effect on organismal health has remained enigmatic for over five decades. Here, we studied whether mice carrying the ribosomal ambiguity (ram) mutation Rps2-A226Y, recently shown to increase the inborn error rate of mammalian translation, if at all viable, present any specific, possibly aging-related, phenotype. We introduced Rps2-A226Y using a Cre/loxP strategy.
View Article and Find Full Text PDFObjective: To evaluate whether sperm banking is under-used in adolescents with cancer.
Study Design: We reviewed our 33 years long experience of semen cryopreservation and identified male subjects with cancer aged 14-21 years who banked their sperm. We hypothesized as a referring model a constant rate of referral in every age category (uniform distribution).
Study Question: Does oral Vitamin D supplementation alter the hormonal milieu of follicular fluid (FF) and the transcriptomic profile of luteinised granulosa cells (GCs) in women with Vitamin D deficiency undergoing IVF?
Summary Answer: A transcriptomic signature relevant to oral Vitamin D supplementation in luteinised GCs was demonstrated, although Vitamin D supplementation did not alter hormone levels in FF.
What Is Known Already: Vitamin D deficiency is linked to lower live birth rates among women undergoing IVF. It is unclear whether Vitamin D elicits a targeted action in reproductive physiology or is a surrogate marker of overall well-being.