Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure–function studies of lysosomal β-galactosidase and the non-lysosomal β-galactosidase-like protein

GM1 gangliosidosis and Morquio B disease

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

✍ Doris Hofer; Karl Paul; Katrin Fantur; Michael Beck; Friederike Bürger; Catherin 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 290 KB

Alterations in GLB1, the gene coding for acid b-D-galactosidase (b-Gal), can result in GM1 gangliosidosis (GM1), a neurodegenerative disorder, or in Morquio B disease (MBD), a phenotype with dysostosis multiplex and normal central nervous system (CNS) function. While most MBD patients carry a common