Sonya Barnes

TL;DR: Effective treatment for such devastating inherited diseases requires an understanding of the early developmental and pathological mechanisms of GSL and ganglioside flux (synthesis and degradation) that underlie the CNS diseases.

TL;DR: Findings delineate the roles of saposin B for the in vivo degradation of several GSLs and its primary function in maintenance of CNS function and its contributions to GSL metabolism and homeostasis.

TL;DR: Gaucher disease is a major cause of death in women in Northern Ireland and the number of women diagnosed with the disease has increased significantly in recent years.

TL;DR: Findings indicate that combined saposins A and B deficiencies attenuated GalCer-β-galactosylceramidase and GM1- β-Galactosidase functions in the degradation of lactosylcersamide preferentially in the liver.

TL;DR: Application of these methods greatly facilitated a range of targeted sphingolipidomic investigations and will permit a better understanding of the function and mechanism of these diverse molecular species in various disease animal models, including Gaucher disease.