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Pharmacological chaperone therapy for Fabry disease
Fabry disease is an inherited lysosomal storage disorder caused by deficient α-galactosidase A activity. Many missense mutations in Fabry disease often cause misfolded gene products, which leads to their retention in the endoplasmic reticulum by the quality control system; they are then removed by e...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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The Japan Academy
2012
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278969/ https://www.ncbi.nlm.nih.gov/pubmed/22241068 http://dx.doi.org/10.2183/pjab.88.18 |