Publications by authors named "Larissa Athayde"
Article Synopsis
- The blood-brain barrier is essential for protecting the central nervous system (CNS) and maintaining its balance, with Claudin-5 (CLDN5) being a key factor in its integrity.
- Researchers discovered new mutations in the CLDN5 gene in 15 unrelated patients, who exhibited symptoms like developmental delays, seizures, and specific brain abnormalities.
- By studying these variants in zebrafish, they found that these mutations likely disrupt the normal function of CLDN5, leading to a new neurodevelopmental disorder that affects both the blood-brain barrier and neuronal health.
The deficiency of the enzyme glutaryl-CoA dehydrogenase, known as glutaric acidemia type I (GA-I), leads to the accumulation of glutaric acid (GA) and glutarilcarnitine (C5DC) in the tissues and body fluids, unleashing important neurotoxic effects. l-carnitine (l-car) is recommended for the treatment of GA-I, aiming to induce the excretion of toxic metabolites. l-car has also demonstrated an important role as antioxidant and anti-inflammatory in some neurometabolic diseases.
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