Publications by authors named "G M Ratto"
Article Synopsis
- CLN8 is a receptor involved in cellular processes, and its dysfunction leads to a neurodegenerative disorder known as neuronal ceroid lipofuscinosis, with no current therapies targeting the disease.
- This study focuses on understanding the molecular pathways affected by CLN8 loss and aims to find potential treatments by using a new zebrafish model that mimics the disease's characteristics.
- Researchers discovered that CLN8 dysfunction disrupts autophagy and found that compounds like trehalose and SG2 can help alleviate disease symptoms in zebrafish, suggesting new avenues for treatment.
Neuronal ceroid lipofuscinosis (NCL) is an umbrella term referring to the most frequent childhood-onset neurodegenerative diseases, which are also the main cause of childhood dementia. Although the molecular mechanisms underlying the NCLs remain elusive, evidence is increasingly pointing to shared disease pathways and common clinical features across the disease forms. The characterization of pathological mechanisms, disease modifiers, and biomarkers might facilitate the development of treatment strategies.
View Article and Find Full Text PDFCortical activity patterns are strongly modulated by fast synaptic inhibition mediated through ionotropic, chloride-conducting receptors. Consequently, chloride homeostasis is ideally placed to regulate activity. We therefore investigated the stability of baseline [Cl] in adult mouse neocortex, using in vivo two-photon imaging.
View Article and Find Full Text PDFCell signaling is central to neuronal activity and its dysregulation may lead to neurodegeneration and cognitive decline. Here, we show that selective genetic potentiation of neuronal ERK signaling prevents cell death in vitro and in vivo in the mouse brain, while attenuation of ERK signaling does the opposite. This neuroprotective effect mediated by an enhanced nuclear ERK activity can also be induced by the novel cell penetrating peptide RB5.
View Article and Find Full Text PDFArticle Synopsis
- - Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 gene haploinsufficiency, leading to developmental delay and behaviors similar to autism, with no specific treatment currently available.
- - The study used Shank3∆11 mice to investigate how the loss of SHANK3 affects inhibitory neurons, revealing that the lack of SHANK3 results in decreased inhibition in the visual cortex, which can be partially restored with drugs like ganaxolone.
- - Behavioral assessments showed that mice lacking SHANK3 exhibited deficits in grooming, memory, and motor skills, which were improved with ganaxolone treatment, suggesting potential therapeutic avenues for PMS and related conditions.