Publications by authors named "M Penzo"
Ribosomal rodeo: wrangling translational machinery in gynecologic tumors.
Cancer Metastasis Rev
December 2024
Gynecologic cancers are a significant cause of morbidity and mortality among women worldwide. Despite advancements in diagnosis and treatment, the molecular mechanisms underlying the development and progression of these cancers remain poorly understood. Recent studies have implicated translational machinery (ribosomal proteins (RPs) and translation factors (TFs)) as potential drivers of oncogenic processes in various cancer types, including gynecologic cancers.
View Article and Find Full Text PDFThe Interplay Between the Oncogene and Ribosomal Proteins in Osteosarcoma Onset and Progression: Potential Mechanisms and Indication of Candidate Therapeutic Targets.
Int J Mol Sci
November 2024
High-grade osteosarcoma (OS) is the most common primary bone tumor mainly affecting children and young adults. First-line treatment consists of neo-adjuvant chemotherapy with doxorubicin, cisplatin, and methotrexate and surgery. The mean long-term survival rate for localized disease at diagnosis is 65-70%, dropping down to 20% when metastases are present at diagnosis.
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- Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder caused by mutations in the DMD gene, impacting dystrophin production in muscle tissues, which is important for patient care and treatment development.
- A study of 943 BMD patients revealed the median age at diagnosis was 7.5 years, with significant findings including that about 13.5% lost mobility by an estimated age of 69, while 30% experienced cardiac issues.
- Different types of DMD mutations correlated with variations in disease progression, particularly affecting loss of ambulation and heart functionality, highlighting the importance of precise genetic characterization for managing BMD.
Article Synopsis
- Duchenne Muscular Dystrophy (DMD) is a serious, progressive disorder that leads to muscle wasting and other complications, requiring a combination of therapies and new approaches to patient care.
- Experts in Italy discussed the challenges of transitioning care for DMD patients from pediatric to adult services, emphasizing the importance of continuous treatment and tracking relevant health outcomes after patients lose their ability to walk.
- Following loss of ambulation, care shifts focus toward cardiac and respiratory health, nutrition, and the maintenance of upper limb function, highlighting the need for shared protocols and better data collection for optimized management.
Article Synopsis
- Cockayne syndrome (CS) is a genetic disorder causing developmental delays, multiple organ issues, and symptoms resembling premature aging.
- The study found that CS shares significant gene expression characteristics with neurodegenerative diseases, particularly Huntington's disease (HD), highlighting disruptions in ribosomal biogenesis and protein stability in CS patient cells.
- Research using cell models demonstrated that the mutant form of the Huntingtin protein in HD leads to similar problems in ribosomal function and overall protein homeostasis, suggesting a common pathway in neurodegeneration between CS and HD.