Background Congenital anomalies of the knee are a spectrum of rare disorders with wide clinical and genetic variability, which are mainly due to the complex processes underlying knee development. Despite progresses in understanding pathomechanisms and associated genes, many patients remain undiagnosed. Objective To uncover the genetic bases of a congenital patellar dislocation affecting multiple family members with variable se...

The structure and properties of a group of gangliosides modified by mild alkaline treatment are discussed. We will present the occurrence and the structure of gangliosides carrying the N -acetyneuraminic acid O -acetylated in position 9, the Neu5,9Ac 2 , and of gangliosides carrying a sialic acid that forms a lactone ring. Starting from biochemical data we will discuss the possible biochemical role played by these gangliosides...

Niemann-Pick type A disease (NPA) is a rare lysosomal storage disorder caused by mutations in the gene coding for the lysosomal enzyme acid sphingomyelinase (ASM). ASM deficiency leads to the consequent accumulation of its uncatabolized substrate, the sphingolipid sphingomyelin (SM), causing severe progressive brain disease. To study the effect of the aberrant lysosomal accumulation of SM on cell homeostasis, we loaded skin fi...

GM1 is a crucial component of neuronal membrane residing both in the soma and nerve terminals. As reported in Parkinson’s disease patients, the reduction of GM1 determines the failure of fundamental functional processes leading to cumulative cell distress up to neuron death. This review reports on the role of GM1 in the pathogenesis of the disease, illustrating the current data available but also hypotheses on the additional m...

Holocene climate variability is punctuated by episodic climatic events such as the Little Ice Age (LIA) predating the industrial-era warming. Their dating and forcing mechanisms have however remained controversial. Even more crucially, it is uncertain whether earlier events represent climatic regimes similar to the LIA. Here we produce and analyse a new 7500-year long palaeoclimate record tailored to detect LIA-like climatic r...

It is well over a century that glycosphingolipids are matter of interest in different fields of research. The hydrophilic oligosaccharide and the lipid moiety, the ceramide, both or separately have been considered in different moments as the crucial portion of the molecule, responsible for the role played by the glycosphingolipids associated to the plasma-membranes or to any other subcellular fraction. Glycosphingolipids are a...

Recently, we demonstrated that the oligosaccharide portion of ganglioside GM1 is responsible, via direct interaction and activation of the TrkA pathway, for the ability of GM1 to promote neuritogenesis and to confer neuroprotection in Neuro2a mouse neuroblastoma cells. Recalling the knowledge that ganglioside GM1 modulates calcium channels activity, thus regulating the cytosolic calcium concentration necessary for neuronal fun...