Results 111 to 120 of about 9,132 (188)

Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis. [PDF]

Cureus, 2023
Pereira-Nunes J, Ferreras C, Grangeia A, Aguiar F, Rodrigues M, Brito I.   +5 more
europepmc   +1 more source

Depletion of Branched-Chain Aminotransferase 2 (BCAT2) Enzyme Impairs Myoblast 3 Survival and Myotube Formation [PDF]

, 2019
Much is known about the positive effects of branched-chain amino acids (BCAA) in regulating muscle protein metabolism. Comparatively much less is known about the effects of these amino acids and their metabolites in regulating myotube formation.
ADEGOKE, OLASUNKANMI, Dhanani, Zameer N., Mann, Gagandeep   +2 more
core  

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment. [PDF]

Mol Syndromol, 2022
Koç Yekedüz M, Doğulu N, Öncül Ü, Köse E, Ceylaner S, Eminoğlu FT.   +5 more
europepmc   +1 more source

Molecular and cellular consequences of mevalonate kinase deficiency

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
Mevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder associated with recurrent autoinflammatory episodes. The disorder is caused by bi-allelic loss-of-function variants in the MVK gene, which encodes mevalonate kinase (MK), an early enzyme in the isoprenoid biosynthesis pathway. To identify molecular and cellular consequences
Frouwkje A, Politiek, Marjolein, Turkenburg, Linda, Henneman, Rob, Ofman, Hans R, Waterham   +4 more
openaire   +2 more sources

Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis. [PDF]

Int J Environ Res Public Health, 2021
Pisanti S, Citro M, Abate M, Caputo M, Martinelli R.   +4 more
europepmc   +1 more source

Recommendations for the management of autoinflammatory diseases.

, 2017
Autoinflammatory diseases are characterised by fever and systemic inflammation, with potentially serious complications. Owing to the rarity of these diseases, evidence-based guidelines are lacking.
Antón López, Jordi, Barron, Karyl, Benseler, Susanne M., Brogan, Paul, Cantarini, Luca, Feldman, Brian, Frenkel, Joost, Galeotti, Caroline, Gattorno, Marco, Grateau, Gilles, Hentgen, Veronique, Hofer, Michael, 1966-, Jeyaratnam, Jerold, Kallinich, Tilmann, Koné-Paut, Isabelle, Kuemmerle-Deschner, Jasmin, Lachmann, Helen J., Oswald, Marlen, Ozdogan, Huri, Ozen, Seza, Russo, Ricardo, Simon, Anna, Ter Haar, Nienke M., Uziel, Yosef, Vastert, Sebastiaan J., Wouters, Carine, Wulffraat, Nico   +26 more
core   +1 more source

Mevalonate kinase deficiency/Hyperimmunoglobulin D syndrome (MVK/HIDS) in a Differential Diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Familial Mediterranean Fever (FMF): A Case Report. [PDF]

Turk Arch Pediatr, 2022
Aktaş B, Gümüş D, Tunalı A, Kunter Z, Adrovic A.   +4 more
europepmc   +1 more source

β-arrestin/connexin 43 complex anchors ERKs outside the nucleus: a pre-requisite for bisphosphonate anti-apoptotic effect mediated by CX43/ERK in osteocytes [PDF]

, 2016
Bisphosphonates (BPs) anti-fracture ef cacy may be due in part to inhibition of osteocyte apoptosis. This effect requires opening of con- nexin (Cx) 43 hemichannels and phosphoryla- tion of the extracellular signal regulated kinases (ERKs).
Bellido, Teresita, Gortazar, Arancha R., Plotkin, Lilian I.   +2 more
core  

The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist. [PDF]

Arthritis Rheumatol, 2022
Romano M, Arici ZS, Piskin D, Alehashemi S, Aletaha D, Barron K, Benseler S, Berard RA, Broderick L, Dedeoglu F, Diebold M, Durrant K, Ferguson P, Foell D, Hausmann JS, Jones OY, Kastner D, Lachmann HJ, Laxer RM, Rivera D, Ruperto N, Simon A, Twilt M, Frenkel J, Hoffman HM, de Jesus AA, Kuemmerle-Deschner JB, Ozen S, Gattorno M, Goldbach-Mansky R, Demirkaya E.   +30 more
europepmc   +1 more source

Toxicity of statins on rat skeletal muscle mitochondria [PDF]

, 2018
.: We investigated mitochondrial toxicity of four lipophilic stains (cerivastatin, fluvastatin, atorvastatin, simvastatin) and one hydrophilic statin (pravastatin).
Brecht, K., Kaufmann, P., Krähenbühl, S., Török, M., Waldhauser, K., Zahno, A.   +5 more
core