Publications by authors named "A Marcantoni"
Glyphosate (Gly) is a broad-spectrum herbicide responsible for the inhibition of the enzyme 5-enolpyruvylshikimate-3-phosphate synthase known to be expressed exclusively in plants and not in animals. For decades Gly has been thought to be ineffective in mammals, including humans, until it was demonstrated that rodents treated with the Gly-based herbicide Roundup showed reduced content of neurotransmitters (e.g.
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- - Melanoma of the external auditory canal (EAC) is rare and poorly understood, with this systematic review analyzing 30 patient cases to provide insights on management and survival, adhering to PRISMA 2020 guidelines.
- - The review finds that Breslow thickness's influence on surgical decisions is unclear due to insufficient data, and both sentinel lymph node biopsy and adjuvant therapies are rarely used, highlighting the need for standardized treatment protocols.
- - Overall, patients show a 50% survival rate at 5 years, indicating that EAC melanoma is an aggressive cancer, with surgical options like wide local excision and lateral temporal bone resection as primary treatments for those without metastatic disease.
Excessive iron levels are believed to contribute to the development of neurodegenerative disorders by promoting oxidative stress and harmful protein clustering. Novel chelation treatments that can effectively remove excess iron while minimizing negative effects on the nervous system are being explored. This study focuses on the creation and evaluation of innovative nanobubble (NB) formulations, shelled with various polymers such as glycol-chitosan (GC) and glycol-chitosan conjugated with deferoxamine (DFO), to enhance their ability to bind iron.
View Article and Find Full Text PDFGermline de novo missense variants of the CACNA1D gene, encoding the pore-forming α1 subunit of Cav1.3 L-type Ca2+ channels (LTCCs), have been found in patients with neurodevelopmental and endocrine dysfunction, but their disease-causing potential is unproven. These variants alter channel gating, enabling enhanced Cav1.
View Article and Find Full Text PDFPurpose: RPH3A encodes a protein involved in the stabilization of GluN2A subunit of N-methyl-D-aspartate (NMDA)-type glutamate receptors at the cell surface, forming a complex essential for synaptic plasticity and cognition. We investigated the effect of variants in RPH3A in patients with neurodevelopmental disorders.
Methods: By using trio-based exome sequencing, GeneMatcher, and screening of 100,000 Genomes Project data, we identified 6 heterozygous variants in RPH3A.