Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales:	Munoz, Marcia A., Jurczyluk, Julie, Simon, Anna, Hissaria, Pravin, Arts, Rob J. W., Coman, David, Boros, Christina, Mehr, Sam, Rogers, Michael J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702261/ https://www.ncbi.nlm.nih.gov/pubmed/31474985 http://dx.doi.org/10.3389/fimmu.2019.01900

Ejemplares similares

Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency
por: Munoz, Marcia A., et al.
Publicado: (2022)

Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases
por: Jurczyluk, Julie, et al.
Publicado: (2016)

Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency
por: Politiek, Frouwkje A., et al.
Publicado: (2021)

Prenylation Defects and Oxidative Stress Trigger the Main Consequences of Neuroinflammation Linked to Mevalonate Pathway Deregulation
por: Pisanti, Simona, et al.
Publicado: (2022)

Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
por: Haas, Dorothea, et al.
Publicado: (2006)

Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiency
por: Shinar, Y, et al.
Publicado: (2015)

A highly sensitive prenylation assay reveals in vivo effects of bisphosphonate drug on the Rab prenylome of macrophages outside the skeleton
por: Ali, Naveid, et al.
Publicado: (2015)

Tocilizumab for the Treatment of Mevalonate Kinase Deficiency
por: Rafiq, Nadia K., et al.
Publicado: (2018)

Mevalonate kinase deficiency: current perspectives
por: Favier, Leslie A, et al.
Publicado: (2016)

Diagnostic value of urinary mevalonic acid excretion in mevalonate kinase deficiency (MKD)
por: Jeyaratnam, Jerold, et al.
Publicado: (2014)

Beyond the Mevalonate Pathway: Control of Post-Prenylation Processing by Mutant p53
por: Borini Etichetti, Carla M, et al.
Publicado: (2020)

Bisphosphonate drugs have actions in the lung and inhibit the mevalonate pathway in alveolar macrophages
por: Munoz, Marcia A, et al.
Publicado: (2021)

Interleukin-1 antagonists in Mevalonate Kinase Deficiency
por: Galeotti, C, et al.
Publicado: (2011)

Weekly oral alendronate in mevalonate kinase deficiency
por: Cantarini, Luca, et al.
Publicado: (2013)

Isolated neurological presentations of mevalonate kinase deficiency
por: Hoytema van Konijnenburg, Eva M. M., et al.
Publicado: (2022)

Effects of mevalonate kinase interference on cell differentiation, apoptosis, prenylation and geranylgeranylation of human keratinocytes are attenuated by farnesyl pyrophosphate or geranylgeranyl pyrophosphate
por: Li, Min, et al.
Publicado: (2020)

Diagnostic value of urinary mevalonic acid excretion in patietns with a clinical suspicion of mevalonate kinase deficiency (MKD)
por: Jeyaratnam, J, et al.
Publicado: (2015)

PW03-021 - HSCT in mevalonate kinase deficiency
por: Wolska-Kuśnierz, B, et al.
Publicado: (2013)

OR11-001 - Protein misfolding in mevalonate kinase deficiency
por: Stojanov, S, et al.
Publicado: (2013)

Mevalonate kinase deficiency and IBD: shared genetic background
por: Bianco, Anna Monica, et al.
Publicado: (2014)

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra
por: Peciuliene, Skaiste, et al.
Publicado: (2016)

Management of Mevalonate Kinase Deficiency: A Pediatric Perspective
por: Jeyaratnam, Jerold, et al.
Publicado: (2020)

Genetic and phenotypic characteristics of 114 patients with mevalonate kinase deficiency
por: Jeyaratnam, J, et al.
Publicado: (2015)

PW02-020 - Colitis revealing mevalonate kinase deficiency
por: Michael, L, et al.
Publicado: (2013)

Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency
por: Ruiz-Ortiz, E, et al.
Publicado: (2015)

Simvastatin Induces Apoptosis in Medulloblastoma Brain Tumor Cells via Mevalonate Cascade Prenylation Substrates
por: Sheikholeslami, Kimia, et al.
Publicado: (2019)

Mevalonate Kinase Deficiency and Neuroinflammation: Balance between Apoptosis and Pyroptosis
por: Tricarico, Paola Maura, et al.
Publicado: (2013)

Natural history of mevalonate kinase deficiency: a literature review
por: Zhang, Shumin
Publicado: (2016)

Mevalonate kinase deficiency: an early onset inflammatory bowel disease?
por: Martins, A, et al.
Publicado: (2015)

Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency
por: Henneman, L., et al.
Publicado: (2010)

Temperature and Drug Treatments in Mevalonate Kinase Deficiency: An Ex Vivo Study
por: Tricarico, Paola Maura, et al.
Publicado: (2013)

Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
por: Mulders-Manders, C. M., et al.
Publicado: (2015)

Molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency()
por: Bifulco, Maurizio
Publicado: (2015)

Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency
por: Nakashimai, Hideyuki, et al.
Publicado: (2016)

The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency
por: Jeyaratnam, Jerold, et al.
Publicado: (2022)

Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis
por: Pereira-Nunes, Joana, et al.
Publicado: (2023)

Efficacy of Anakinra Treatment in two Moroccan Patients With Mevalonate Kinase Deficiency
por: Souali, Manal, et al.
Publicado: (2023)

A case of neonatal sweet syndrome associated with mevalonate kinase deficiency
por: Irwin, Margaret, et al.
Publicado: (2023)

Metformin Suppresses Cancer Stem Cells through AMPK Activation and Inhibition of Protein Prenylation of the Mevalonate Pathway in Colorectal Cancer
por: Seo, Yoojeong, et al.
Publicado: (2020)

PReS-FINAL-2212: Mevalonate kinase deficiency: different faces with separate treatments
por: Gençpınar, P, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_p08ae6s79sv42qoq1dfs7fijij