Publications by authors named "Uliana Musokhranova"
The study of inborn errors of neurotransmission has been mostly focused on monoamine disorders, GABAergic and glycinergic defects. The study of the glutamatergic synapse using the same approach than classic neurotransmitter disorders is challenging due to the lack of biomarkers in the CSF. A metabolomic approach can provide both insight into their molecular basis and outline novel therapeutic alternatives.
View Article and Find Full Text PDFBackground: Rett syndrome is a neuropediatric disease occurring due to mutations in MECP2 and characterized by a regression in the neuronal development following a normal postnatal growth, which results in the loss of acquired capabilities such as speech or purposeful usage of hands. While altered neurotransmission and brain development are the center of its pathophysiology, alterations in mitochondrial performance have been previously outlined, shaping it as an attractive target for the disease treatment.
Methods: We have thoroughly described mitochondrial performance in two Rett models, patients' primary fibroblasts and female Mecp2 mice brain, discriminating between different brain areas.
Article Synopsis
- - Limb-girdle muscular dystrophies (LGMD) include various genetic muscle disorders, and the TRAPPC11-related LGMD R18 is noted for causing muscle weakness and intellectual disability, particularly in Roma individuals due to a specific genetic variant.
- - A study of 25 Roma individuals revealed that the c.1287+5G>A variant results in early muscle weakness and intellectual challenges, along with almost universal microcephaly and potential seizures triggered by early-life infections.
- - Findings suggest that the genetic variant not only affects muscle function but also disrupts mitochondrial health, revealing insights into its impact on energy production and cellular structure in affected individuals.