Joana Carvalho, PhD, managing science editor —

Culturing skin cells from patients with Mucopolysaccharidosis IIIB (MPS IIIB) at lower temperatures promotes the production of the active form of the alpha-N-acetylglucosaminidase (NAGLU) enzyme, researchers have found. These results may be relevant for the development of new therapeutic strategies for MPS IIIB, also known as Sanfilippo syndrome type B. The…

For the first time, researchers have created and validated two lines of stem cells derived from the skin cells of a patient with mucoplysaccharydosis IIIA (MPSIIIA), the most severe form of Sanfilippo syndrome. According to the scientists, these patient-derived stem cells could be a useful tool not only to study the…

Genetic substrate reduction therapy (gSRT) may become a promising new avenue to treat patients with lysosomal storage disorders such as Sanfilippo syndrome, according to a review study. The review, “Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders,” published in Diseases, focused on gathering, summarizing, and discussing…

Restoring the activity of the alpha-N-acetylglucosaminidase (NAGLU) enzyme using an artificial viral vector successfully corrected metabolic abnormalities in a mouse model of Mucopolysaccharidosis IIIB (MPS IIIB), also known as Sanfilippo syndrome, a new study using mice shows. The study, “Near-Complete Correction of Profound Metabolomic Impairments Corresponding to Functional…