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Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency
The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the MVK gene encoding mevalonate kinase. Deficiency of this enzyme decreases the synthesis of isoprenoid lipids and thus prevents the normal...
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| Publicado no: | Front Immunol |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6702261/ https://ncbi.nlm.nih.gov/pubmed/31474985 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2019.01900 |
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