The experimental work presented in this thesis deals with the genetic and molecular basis of lysosomal Bgalactosidase deficiencies in man. The first section (II.1) deals with the characteristics of lysosomal Bgalactosidase and the second (II.2) with its major natural substrates, GM1-ganglioside and keratan sulfate, and the activator proteins. A single lysosomal B-galactosidase deficiency is the cause of the lysosomal storage diseases GM1-gangliosidosis and Morquio B syndrome. The clinical pathological and biochemical features of the different variants of these diseases are summarized in section II.3. A B-galactosidase deficiency in man also occurs as part of a multiple lysosomal enzyme deficiency. In patients with galactosialidosis there is a coexistent deficiency of lysosomal neuraminidase and lysosomal B-galactosidase, while in mucolipidosis II ("I-cell" disease) many lysosomal (enzyme) proteins, including B-galactosidase, are deficient due to a defective Man 6-P recognition marker (see Chapter I). The major features of these two diseases are summarized in section II.4. Finally, some aspects of therapy of lysosomal storage diseases and animal models are discussed in section II.S.

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Erasmus University Rotterdam
H. Galjaard (Hans)
hdl.handle.net/1765/51191
Erasmus MC: University Medical Center Rotterdam

Hoogeveen, A. (1987, December 18). β-galactosidase in normal and mutant human cells. Retrieved from http://hdl.handle.net/1765/51191