Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.
Adult
Biomarkers
/ metabolism
Cells, Cultured
Child
Female
Genotype
Hereditary Autoinflammatory Diseases
/ diagnosis
Humans
Leukocytes, Mononuclear
/ metabolism
Male
Mevalonate Kinase Deficiency
/ diagnosis
Mutation
Phosphorylation
Phosphotransferases (Alcohol Group Acceptor)
/ genetics
Protein Prenylation
/ genetics
rap1 GTP-Binding Proteins
/ genetics
HIDS
Rab GTPase
Rap1
autoinflammation
mevalonate kinase
prenylation
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2019
2019
Historique:
received:
27
02
2019
accepted:
26
07
2019
entrez:
3
9
2019
pubmed:
3
9
2019
medline:
6
10
2020
Statut:
epublish
Résumé
The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the
Identifiants
pubmed: 31474985
doi: 10.3389/fimmu.2019.01900
pmc: PMC6702261
doi:
Substances chimiques
Biomarkers
0
Phosphotransferases (Alcohol Group Acceptor)
EC 2.7.1.-
mevalonate kinase
EC 2.7.1.36
rap1 GTP-Binding Proteins
EC 3.6.5.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1900Références
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