Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on β-Hexosaminidase Activity in Sandhoff Fibroblasts

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

(2012) Stefania Zampieri et al.   PLoS One

Crystal Structure of β-Hexosaminidase B in Complex with Pyrimethamine, a Potential Pharmacological Chaperone

(2011) Katherine S. Bateman et al.   JOURNAL OF MEDICINAL CHEMISTRY

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

(2010) Joe T.R. Clarke et al.   MOLECULAR GENETICS AND METABOLISM

Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs

(2010) Etty Osher et al.   MOLECULAR GENETICS AND METABOLISM

A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates

(2009) M. B Tropak et al.   GLYCOBIOLOGY

Protein Misfolding in Conformational Disorders: Rescue of Folding Defects and Chemical Chaperoning

(2008) Paula Leandro et al.   MINI-REVIEWS IN MEDICINAL CHEMISTRY