SULFATASES AND HUMAN DISEASE
| العنوان: | SULFATASES AND HUMAN DISEASE |
|---|---|
| المؤلفون: | Andrea Ballabio, Graciana Diez-Roux |
| المساهمون: | DIEZ ROUX, G., Ballabio, Andrea |
| المصدر: | Annual Review of Genomics and Human Genetics. 6:355-379 |
| بيانات النشر: | Annual Reviews, 2005. |
| سنة النشر: | 2005 |
| مصطلحات موضوعية: | Molecular Sequence Data, Biology, medicine.disease_cause, Evolution, Molecular, Multiple sulfatase deficiency, Genetics, medicine, Animals, Humans, Gene family, Oxidoreductases Acting on Sulfur Group Donors, Amino Acid Sequence, Molecular Biology, Peptide sequence, Phylogeny, Genetics (clinical), chemistry.chemical_classification, Mutation, Molecular Structure, Sequence Homology, Amino Acid, Sulfatase, medicine.disease, Disease Models, Animal, Enzyme, Biochemistry, chemistry, Sulfatase-Modifying Factor 1, Formylglycine-generating enzyme, Sulfatases, Lysosomes, Protein Processing, Post-Translational, Metabolism, Inborn Errors |
| الوصف: | ▪ Abstract Sulfatases are a highly conserved family of proteins that cleave sulfate esters from a wide range of substrates. The importance of sulfatases in human metabolism is underscored by the presence of at least eight human monogenic diseases caused by the deficiency of individual sulfatases. Sulfatase activity requires a unique posttranslational modification, which is impaired in patients with multiple sulfatase deficiency (MSD) due to a mutation of the sulfatase modifying factor 1 (SUMF1). Here we review current knowledge and future perspectives on the evolution of the sulfatase gene family, on the role of these enzymes in human metabolism, and on new developments in the therapy of sulfatase deficiencies. |
| وصف الملف: | STAMPA |
| تدمد: | 1545-293X 1527-8204 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a890a3afb56663c51c6e7e216098703Test https://doi.org/10.1146/annurev.genom.6.080604.162334Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....0a890a3afb56663c51c6e7e216098703 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1545293X 15278204 |
|---|