Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients


Sandhoff disease (SD) is a lysosomal storage disorder due to mutations in the gene encoding for the β-subunit of β-hexosaminidase, that result in β-hexosaminidase A (αβ) and β-hexosaminidase B (ββ) deficiency. This leads to the storage of GM2 ganglioside in endosomes and lysosomes, which ends in a progressive neurodegeneration. Currently, very little is… (More)
DOI: 10.1007/s11010-009-0277-0

8 Figures and Tables


  • Presentations referencing similar topics