Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review. [PDF]
Pediatr Rheumatol Online JLi Y, Lu M.
europepmc +1 more source
Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab. [PDF]
Arch Rheumatol, 2020 Çakan M +3 more
europepmc +1 more source
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome. [PDF]
PLoS One, 2020 Govindaraj GM +16 more
europepmc +1 more source
Effects of mevalonate kinase interference on cell differentiation, apoptosis, prenylation and geranylgeranylation of human keratinocytes are attenuated by farnesyl pyrophosphate or geranylgeranyl pyrophosphate. [PDF]
Exp Ther Med, 2020 Li M +7 more
europepmc +1 more source
Periodic fever and mevalonate kinase deficiency
, 2002 Mevalonate kinase (MK) deficiency is an autosomal recessive disorder, caused by mutations in the MVK-gene on chromosome 12q24. The affected enzyme catalyzes an early step in isoprenoid biosynthesis, the pathway that produces cholesterol and several non-sterol isoprenoids.
openaire +1 more source
PBA Preferentially Impairs Cell Survival of Glioblastomas Carrying mutp53 by Reducing Its Expression Level, Stabilizing wtp53, Downregulating the Mevalonate Kinase and Dysregulating UPR. [PDF]
Biomolecules, 2020 Romeo MA +5 more
europepmc +1 more source
Correction: Directed evolution of mevalonate kinase in Escherichia coli by random mutagenesis for improved lycopene. [PDF]
RSC Adv, 2019 Chen H +5 more
europepmc +1 more source
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness. [PDF]
BMC Pediatr, 2019 Coppola T +4 more
europepmc +1 more source
HSCT in mevalonate kinase deficiency
Pediatric Rheumatology, 2013 Wolska-Kuśnierz, Beata +3 more
openaire +1 more source