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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Bibliographic Details
Published in:Front Immunol
Main Authors: Munoz, Marcia A., Jurczyluk, Julie, Simon, Anna, Hissaria, Pravin, Arts, Rob J. W., Coman, David, Boros, Christina, Mehr, Sam, Rogers, Michael J.
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2019
Subjects:
Immunology
Online Access: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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