Hyperactivity

…aimed at blocking or reducing hyperactivity improve vision initiated from surviving photoreceptors and could enhance the signal fidelity genera

The splicing factor RBFOX1 exerts a pleiotropic effect on numerous psychiatric and neurodevelopmental disorders; however, the exact working mechanisms remain largely unknown. One potential mechanism that could partially explain the influence of RBFOX1 on some psychiatric traits is through the modulation of the serotonergic system, a common target for medical intervention in psychiatric disorders associated with RBFOX1.Here we studied a rbfox1 mutant zebrafish model, carrying a rbfox1sa15940 allele that expresses a shorter, aberrant rbfox1 mRNA. In the homozygous rbfox1sa15940 zebrafish we obse

Neurofibromatosis type 1 (NF1) is one of the most prevalent rare genetic diseases, confronting patients with numerous medical (neurological, cutaneous, osseous) and neuropsychological symptoms. To identify risk factors and allow for targeted neuropsychological intervention, potential associations between the heterogenous somatic and cognitive phenotype have been proposed.The present study harnesses the benefits of machine learning analysis to investigate potential non-/linear associations between the medical and neuropsychological profiles of n=236 pediatric NF1 patients. A total of 14 models

Hyperactivity is a persistent symptom of anorexia nervosa (AN) that often precedes occurrence of the disease, and constitutes a major barrier to recovery. Alteration of mesolimbic dopamine transmission has been hypothesized as a critical factor for the development and maintenance of AN and hyperactivity. However, the nature of dopamine dysfunction in AN, and the underlying mechanisms remain unclear. We therefore aimed at i) characterizing the impact of the activity-based anorexia (ABA) model on ventral tegmental area dopamine (VTADA) neurons and ii) determining whether restoring activity of VT

Ether phospholipid synthesis has been genetically and physiologically linked to neurodevelopmental diseases like ADHD and autism. However, so far it is unclear whether plasmalogen or non-plasmalogen ether lipid species mediate this association. To address this, we compared two distinct mouse models, namely Gnpat KO and Peds1 KO, and wild-type controls. Glyceronephosphate O-acyltransferase (GNPAT) initiates the formation of the defining ether bond inside peroxisomes; lack of this enzyme abolishes the biosynthesis of all ether lipids. Plasmanylethanolamine desaturase (PEDS1, TMEM189) completes p

…changes, resulting in the emergence of hyperactivity and rhythmic firing in many retinal ganglion cells (RGC). We recently discovered that retinoic acid (RA) is a key signal that triggers hyperactivity and that blockers of RA unmask light responses in RGCs that would otherwise be obscured. Recent work is revealing where in the retina circuit RA initiates functional changes. Moreover, int