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
Publicado en: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.
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2019
Assuntos:
Immunology
Acceso en liña: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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