Publications by authors named "E Brivio"
Article Synopsis
- Brain development involves the coordinated growth of structures necessary for forming neural circuits, with the corpus callosum being a crucial connection between brain hemispheres.
- Defects in the growth process, particularly in the development of callosal projection neurons, can lead to syndromic corpus callosum dysgenesis (CCD) and are associated with other conditions like microcephaly.
- The study identifies WDR47 as a key gene responsible for survival of callosal neurons and highlights its role in mitochondrial and microtubule maintenance, suggesting that mutations in this gene lead to a new neurodevelopmental syndrome involving corpus callosum abnormalities.
The single nucleotide polymorphism rs13166360, causing a substitution of valine (Val) 147 to leucine (Leu) in the adenylyl cyclase 2 (ADCY2), has previously been associated with bipolar disorder (BD). Here we show that the disease-associated ADCY2 missense mutation diminishes the enzyme´s capacity to generate the second messenger 3',5'-cylic adenosine monophosphate (cAMP) by altering its subcellular localization. We established mice specifically carrying the Val to Leu substitution using CRISPR/Cas9-based gene editing.
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- Inotuzumab ozogamicin is an approved treatment for relapsed/refractory B-cell precursor acute lymphoblastic leukemia (BCP-ALL) in adults, but its pharmacokinetics in children have not been studied until now.
- This research analyzed serum concentrations from a diverse patient group, utilizing a modified adult pharmacokinetic model to understand how the drug behaves in pediatric patients with BCP-ALL.
- Results indicated that older pediatric patients showed a different drug clearance pattern, with higher drug exposure correlating to better treatment responses among those with relapsed/refractory BCP-ALL.
The treatment of childhood acute lymphoblastic leukemia (ALL) has reached overall survival rates exceeding 90%. The present and future challenges are to cure the remainder of patients still dying from disease, and to reduce morbidity and mortality in those who can be cured with standard-of-care chemotherapy by replacing toxic chemotherapy elements while retaining cure rates. With the novel therapeutic options introduced in the last years, including immunotherapies and targeted antibodies, the treatment of ALL is undergoing major changes.
View Article and Find Full Text PDFThe ADAT2/ADAT3 complex catalyzes the adenosine to inosine modification at the wobble position of eukaryotic tRNAs. Mutations in , the catalytically inactive subunit of the ADAT2/ADAT3 complex, have been identified in patients presenting with severe neurodevelopmental disorders (NDDs). Yet, the physiological function of ADAT2/ADAT3 complex during brain development remains totally unknown.
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