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Theses/Dissertations

University of Massachusetts Amherst

2014

Biochemistry, Biophysics, and Structural Biology

Lysosomal storage diseases

Articles 1 - 2 of 2

Full-Text Articles in Life Sciences

Expression And Purification Of Human Lysosomal Β-Galactosidase From Pichia Pastoris, Sarah E. Tarullo Nov 2014

Expression And Purification Of Human Lysosomal Β-Galactosidase From Pichia Pastoris, Sarah E. Tarullo

Masters Theses

Lysosomal storage diseases are genetically inherited diseases caused by the dysfunction of lysosomal enzymes. In a normal cell, lysosomal enzymes cleave specific macromolecules as they are transported to the lysosome. However, in diseased cells, these lysosomal enzymes are either absent or malfunctioning, causing macromolecular substrates to accumulate, becoming toxic to the cell. Over fifty lysosomal storage diseases have been identified, collectively occurring in one out of 7,700 live births. We investigated the lysosomal enzyme β-galactosidase (β-gal). In order to study the biochemistry and enzymology of this protein a robust expression system was needed. The GLB1 gene has been inserted ...


Structural Biology And Pharmacology Of Human Cathepsin A And Neuraminidase 1, Nilima Kolli Aug 2014

Structural Biology And Pharmacology Of Human Cathepsin A And Neuraminidase 1, Nilima Kolli

Doctoral Dissertations

Human cathepsin A (also known as Protective Protein/Cathepsin A, PPCA; E.C. 3.4.16.5) is a lysosomal serine carboxypeptidase. Cathepsin A is also involved in a complex with two other lysosomal enzymes: lysosomal neuraminidase (NEU1, E.C. 3.2.1.18) and β-galactosidase (GLB1, E.C. 3.2.1.23). Deficiency in cathepsin A and NEU1 result in the lysosomal storage diseases, galactosialidosis and sialidosis respectively. Deficiency in GLB1 results in GM1 gangliosidosis and Morquio B diseases.

Cathepsin A protease activity is spatially regulated by activation of the inactive precursor form to the mature form in ...