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Article

Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis.

Human molecular genetics - 12 Apr 2000

Durand P, Fabrega S, Henrissat B, Mornon J P, Lehn P

Abstract excerpt

Lysosomal storage diseases are due to inherited deficiencies in various enzymes involved in basic metabolic processes. As with other genetic diseases, accurate structure data for these enzymatic proteins should help in better understanding the molecular effects of mutations identified in patients with the corresponding lysosomal diseases; however, no such three-dimensional (3D) structure data are available for...

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PMID: 10767320
DOI: 10.1093/hmg/9.6.967

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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