Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases-Reference-Cited by-同舟云学术

Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases

Published:2016-07-05 Issue:10 Volume:94 Page:994-999
ISSN:0818-9641
Container-title:Immunology & Cell Biology
language:en
Short-container-title:Immunol Cell Biol

Author:

Jurczyluk Julie¹,Munoz Marcia A¹,Skinner Oliver P¹,Chai Ryan C¹,Ali Naveid¹,Palendira Umaimainthan¹,Quinn Julian MW¹,Preston Alexandra¹,Tangye Stuart G¹,Brown Andrew J²,Argent Elizabeth³⁴,Ziegler John B⁴⁵,Mehr Sam⁶,Rogers Michael J¹

Affiliation:

1. Garvan Institute of Medical Research and St Vincent's Clinical School, UNSW Australia Sydney New South Wales Australia

2. School of Biotechnology & Biomolecular Sciences, UNSW Australia Sydney New South Wales Australia

3. Department of General Paediatrics, Sydney Children's Hospital Randwick New South Wales Australia

4. School of Women's and Children's Health, UNSW Australia Sydney New South Wales Australia

5. Department of Immunology & Infectious Disease, Sydney Children's Hospital Randwick New South Wales Australia

6. Department of Immunology and Allergy, Children's Hospital at Westmead Sydney New South Wales Australia

Funder

National Health and Medical Research Council

Ernest Heine Family Foundation

Publisher

Wiley

Subject

Cell Biology,Immunology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1038/icb.2016.58

Reference30 articles.

1. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

2. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome

3. Mevalonate kinase deficiency: Evidence for a phenotypic continuum

4. Mevalonate kinase deficiency, a metabolic autoinflammatory disease

5. Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

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