Publications by authors named "D Chiabrando"
Congenital hydrocephalus (CH), occurring in approximately 1/1,000 live births, represents an important clinical challenge due to the limited knowledge of underlying molecular mechanisms. The discovery of novel CH genes is thus essential to shed light on the intricate processes responsible for ventricular dilatation in CH. Here, we identify FLVCR1 (feline leukemia virus subgroup C receptor 1) as a gene responsible for a severe form of CH in humans and mice.
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- Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are rare disorders affecting sensory and autonomic neurons, making them hard to study due to limited data.
- A large international study identified 80 new pathogenic variants in 73 families across known CIP/HSAN-related genes, expanding knowledge on these diseases.
- Advanced methodologies like in silico predictions and metabolic tests improved variant classification, crucial for guiding future gene-specific treatments in clinical trials.
Cardiomyopathy deeply affects quality of life and mortality of patients with b-thalassemia or with transfusion-dependent myelodysplastic syndromes. Recently, a link between Nrf2 activity and iron metabolism has been reported in liver ironoverload murine models. Here, we studied C57B6 mice as healthy control and nuclear erythroid factor-2 knockout (Nrf2-/-) male mice aged 4 and 12 months.
View Article and Find Full Text PDFThe Feline Leukemia Virus Subgroup C Receptor 1a (FLVCR1a) is a transmembrane heme exporter essential for embryonic vascular development. However, the exact role of FLVCR1a during blood vessel development remains largely undefined. Here, we show that FLVCR1a is highly expressed in angiogenic endothelial cells (ECs) compared to quiescent ECs.
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- Cancer is a major global health issue, and drug resistance limits the effectiveness of standard treatments, making the repurposing of metformin, an antidiabetic drug, a promising option.
- Recent research shows a connection between heme metabolism and cancer cell survival, specifically the role of ALAS1 and FLVCR1a in regulating oxidative metabolism.
- The study reveals that inhibiting the heme synthesis-export system enhances the effectiveness of metformin against colorectal cancer cells, suggesting a potential strategy to improve cancer treatment outcomes by targeting heme metabolism alongside metformin.