Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency

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
Main Authors: Marcia A. Munoz, Julie Jurczyluk, Anna Simon, Pravin Hissaria, Rob J. W. Arts, David Coman, Christina Boros, Sam Mehr, Michael J. Rogers
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-08-01
Series:Frontiers in Immunology
Subjects:
HIDS
mevalonate kinase
prenylation
Rab GTPase
Rap1
autoinflammation
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.01900/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2019.01900/full

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