Publications by authors named "E Rossignol"
Background/objectives: Nearly 10% of cancers could be prevented through dietary changes. In addition, breast cancer (BC) is the most common cancer in women worldwide. Inadequate diet may lead to several metabolic abnormalities, including metabolic syndrome (MS).
View Article and Find Full Text PDFRNA polymerase III (POLR3)-related leukodystrophy is a rare, neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Despite the challenges of caring for a child with POLR3-related leukodystrophy, few studies have examined parents' disease burden. We sought to investigate quality of life and stress levels amongst parents of children with POLR3-related leukodystrophy.
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- The TRIO gene has been linked to intellectual deficiency, autism spectrum disorder, and developmental epileptic encephalopathies due to recessive and de novo mutations.
- Research indicates that TRIO is essential for the migration of GABAergic interneurons, specifically regulating their movement during brain development through its guanine nucleotide exchange factor (GEF) domains.
- In studies involving Trio mutant mice, findings revealed reduced numbers of migrating interneurons, leading to increased seizures and behavioral issues, highlighting TRIO's crucial role in maintaining cortical inhibition and proper neuronal migration dynamics.
Article Synopsis
- GTPases from the Rab family play a crucial role in membrane trafficking, and issues with these proteins have been linked to various neurological disorders, particularly involving RAB11A variants causing developmental and epileptic encephalopathy.
- The study examined 16 patients with RAB11A variants, mostly de novo heterozygous missense mutations, finding that these variants are associated with intellectual disability, developmental delays, and a range of other physical and neurological symptoms.
- The research suggests that while epilepsy is less common and less severe in patients with binding site mutations, the RAB11A neurodevelopmental disorder can affect multiple body systems, including gait, muscle tone, brain structure, and even fat distribution.
CACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast synaptic neurotransmission.
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