Publications by authors named "A Palmigiano"
Mucopolysaccharidoses (MPS) are lysosomal storage diseases caused by defects in catabolism of glycosaminoglycans. MPS I, II, III and VII are associated with lysosomal accumulation of heparan sulphate and manifest with neurological deterioration. Most of these neurological MPS currently lack effective treatments.
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- The chapter details a laboratory methodology for analyzing the N-glycome in cerebrospinal fluid (CSF) using various techniques.
- N-glycans are extracted from glycoproteins through digestion with PNGase F and purified using specialized solid phase extraction cartridges.
- The resulting glycans are permethylated for enhanced analysis via mass spectrometry, helping to link specific N-glycome profiles to different stages of Alzheimer's disease.
In this chapter, we will present a high-throughput method applied in our laboratory for the structural elucidation of the cerebrospinal fluid (CSF) N-glycome. This methodology is based on a commercial equipment developed by WATERS™ to speed up N-deglycosylation and N-glycan labeling of glycoproteins of pharmaceutical and biological interest such as monoclonal antibodies. This analytical kit is sold under the trade name of RapiFluor-MS (RFMS).
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- The study explores how optogenetic stimulation affects neuronal activity in the visual cortex of mice and monkeys, revealing that it mainly alters individual neuron responses rather than the overall firing rate distribution.
- Results indicate that responses of neurons in both species are similar, shifting them along a continuum of firing rates, with mice at lower rates and monkeys at higher rates.
- The findings suggest that reshuffling of neuronal firing patterns can occur in networks with random connections, dependent on the strength of coupling among neurons, and that a more sophisticated model can lower the required coupling strength for this effect.
Sialidosis is an ultra-rare multisystemic lysosomal disease caused by mutations in the neuraminidase 1 (NEU1) gene. The severe type II form of the disease manifests with a prenatal/infantile or juvenile onset, bone abnormalities, severe neuropathology, and visceromegaly. A subset of these patients present with nephrosialidosis, characterized by abrupt onset of fulminant glomerular nephropathy.
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