by admin | Jun 30, 2025 | News
Fabry disease is an inherited metabolic disease that is caused by an abnormal accumulation of sphingolipids, including globotriaosylceramide (Gb-3), in lysosomes. Patients with Fabry disease have reduced or absence of an enzyme called α-galactosidase, which...
by admin | May 28, 2025 | News
The aim of this thesis was to develop and characterize flow-through reactors based on the immobilization of alternative aspartic proteases-mucorpepsin and rhizopuspepsin-and to evaluate their applicability for the digestion of model proteins and the therapeutic...
by admin | May 7, 2025 | News
Sex-specific penetrance in autosomal dominant Mendelian conditions is largely understudied. The neurodevelopmental disorder Pilarowski-Bjornsson syndrome (PILBOS) was initially described in females. Here, we describe the clinical and genetic characteristics of the...
by admin | Apr 15, 2025 | News
Despite the natural ability of the immune system to recognize cancer and, in some patients, even to eliminate it, cancer cells have acquired numerous evading mechanisms. With the increasing knowledge and focus shifting from targeting rapidly proliferating cells with...
by admin | Apr 8, 2025 | News
The critical role of the immune system in brain function and dysfunction is well recognized, yet development of immune therapies for psychiatric diseases has been slow due to concerns about iatrogenic immune deficiencies. These concerns are emphasized by the lack of...
by admin | Mar 20, 2025 | News
Clinical findings in Fabry disease have classically been attributed to loss-of-function variants in the GLA gene that result in α-galactosidase A deficiency, intracellular accumulation of globotriaosylceramides and clinical manifestations. However, over time,...