FIGURE 1.

Deficient CLN2 activity in cell lines derived from patients affected with LINCL. CLN2 activity was determined in lysates of SV40-transformed fibroblasts (A) and Epstein-Barr virus-transformed lymphoid cell lines (B) derived from control subjects or different LINCL patients (means ± S.E. of 4-6 independent determinations). The insets correspond to the nature of the mutations reported for LINCL patients. Nucleotides are numbered according to AF039704; n.i., not identified. C, cellular lysates were prepared and analyzed by Western blotting using a monoclonal antibody against the CLN2 protein. Results are representative of three independent experiments.