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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Detalles Bibliográficos
Autores principales: Munoz, Marcia A., Jurczyluk, Julie, Simon, Anna, Hissaria, Pravin, Arts, Rob J. W., Coman, David, Boros, Christina, Mehr, Sam, Rogers, Michael J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702261/
https://www.ncbi.nlm.nih.gov/pubmed/31474985
http://dx.doi.org/10.3389/fimmu.2019.01900

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702261/
https://www.ncbi.nlm.nih.gov/pubmed/31474985
http://dx.doi.org/10.3389/fimmu.2019.01900

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