Impact of β-galactosidase mutations on the expression of the canine lysosomal multienzyme complex

Robert Kreutzer , Mihaela Kreutzer , Adrian C Sewell , Somporn Techangamsuwan , Tosso Leeb , Wolfgang Baumgärtner

Beta-galactosidase (GLB1) forms a functional lysosomal multienzyme complex with lysosomal protective protein (PPCA) and neuraminidase 1 (NEU1) which is important for its intracellular processing and activity. Mutations in the β-galactosidase gene cause the lysosomal storage disease G-gangliosidosis. In order to identify additional molecular changes associated with the presence of β-galactosidase mutations, the expression of canine lysosomal multienzyme complex components in , and fibroblasts was investigated by quantitative RT-PCR, Western Blot and enzymatic assays.

Mots clés: Differential expression; β-galactosidase variants; protective protein/cathepsin A and neuraminidase 1; lysosomal multienzyme complex; G-gangliosidosis

Robert Kreutzer, Mihaela Kreutzer, Adrian C Sewell, Somporn Techangamsuwan, Tosso Leeb, et al.. Impact of β-galactosidase mutations on the expression of the canine lysosomal multienzyme complex. Biochimica et Biophysica Acta - Molecular Basis of Disease, 2009, 1792 (10), pp.982. ⟨10.1016/j.bbadis.2009.07.004⟩. ⟨hal-00521091⟩