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Carboxyl-Terminal Truncations Alter the Activity of the Human α-Galactosidase A
Fabry disease is an X-linked inborn error of glycolipid metabolism caused by deficiency of the human lysosomal enzyme, α-galactosidase A (αGal), leading to strokes, myocardial infarctions, and terminal renal failure, often leading to death in the fourth or fifth decade of life. The enzyme is respons...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342250/ https://www.ncbi.nlm.nih.gov/pubmed/25719393 http://dx.doi.org/10.1371/journal.pone.0118341 |