Glycosphingolipid hydrolases: properties and molecular genetics.

Publication/Presentation Date

10-7-1977

Abstract

This is a review of the properties and molecular genetics of six lysosomal hydrolases: beta-galactosidase, hexosaminidases A and B, alpha-galactosidase, beta-glucosidase and alpha-fucosidase. Each enzyme is discussed with regards to isoenzymes and substrate specificity, subunit structure, genetic relationship of isoenzymes and genetic variants. The molecular genetics of human diseases caused by deficiencies of each enzyme are discussed.

Volume

17

Issue

3

First Page

125

Last Page

140

ISSN

0300-8177

Disciplines

Medicine and Health Sciences

PubMedID

200837

Department(s)

Department of Medicine

Document Type

Article

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