Spontaneous neuronal activity of cultivated cells is one of the physiologically most relevant read-outs related to neuronal health. Calcium concentration is widely used in neuroscience as a competent indirect reporter of neural activity, as action potential (AP) firing triggers large influxes of Ca2+ through voltage-gated calcium channels. Utilizing IncuCyte® NeuroBurst, a genetically-encoded calcium indicator (GECI), …

Compound muscle action potential (CMAP) is an electrophysiological technique commonly employed to monitor the functional status of muscles in anesthetized animals. CMAP measurements offer insight into physiological development as well as degeneration of the peripheral neuromuscular system. As part of the electromyographic (EMG) evaluation, CMAP is regularly used in diagnostic and clinical human studies, providing …

A mutation of the FMR1 gene (Fragile X mental retardation 1) leads to a X-linked genetic disorder called Fragile X syndrome (FXS), the most frequently inherited form of intellectual disability and the monogenic cause of autism spectrum disorder (ASD). Patients of ASD present communication and socialization impairments, repetitive behaviors with restricted interest, and hyperactivity. Silencing …

Huntington’s disease (HD) is an autosomal-dominantly inherited, fatal, neurodegenerative disorder. Patients present with motor dysfunctions, psychiatric symptoms, cognitive impairments, and metabolic abnormalities. HD is solely caused by the expansion of an unstable repeat of CAG base triplets in the coding region of the Huntingtin gene, HTT. The age of disease onset correlates inversely with the …

After validating muscle weakness and motor deficits in young 6neo mice as model of Pompe disease, our team now evaluated acid α-glucosidase (GAA) enzyme activity to validate enzyme reduction and glycogen substrate levels in non-neuronal and neuronal tissue of this lysosomal storage disease mouse model. Quadriceps femoris muscle and cortical tissue of Pompe 6neo mice …