Results 61 to 70 of about 29,180 (194)

Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency

, 2007
Mevalonate kinase deficiency is a rare inborn disorder of isoprenoid and sterol biosynthesis characterized by a recurrent autoinflammatory syndrome and, in most severe cases, psychomotor delay.
Nevyjel, Marco, Waterham, Hans R., Barbi, Egidio, Pontillo, Alessandra, Tommasini, Alberto, Marilena Granzotto, Granzotto, Marilena, Alessandra Pontillo, Andrea D'Osualdo, Egidio Barbi, Lorenzo Calligaris, Alberto Tommasini, Sergio Crovella, D'Osualdo, Andrea, Alessandro Ventura, Calligaris, Lorenzo, Crovella, Sergio, Ventura, Alessandro, Marco Nevyjel, Hans R. Waterham   +19 more
core   +2 more sources

Mevalonate kinase deficiency and neuroinflammation: balance between apoptosis and pyroptosis. [PDF]

Int J Mol Sci, 2013
Mevalonic aciduria, a rare autosomal recessive disease, represents the most severe form of the periodic fever, known as Mevalonate Kinase Deficiency. This disease is caused by the mutation of the MVK gene, which codes for the enzyme mevalonate kinase ...
Tricarico PM, Marcuzzi A, Piscianz E, Monasta L, Crovella S, Kleiner G.   +5 more
europepmc   +2 more sources

Discontinuing Long‐Term Denosumab in Treating Fragile Bone: Why, for Whom, and How?

Clinical Pharmacology &Therapeutics, EarlyView.
Discontinuation of denosumab (Dmab) may be necessary due to adverse events or an unfavorable long‐term risk–benefit profile. However, accumulating evidence demonstrates pronounced rebound phenomena after withdrawal, most notably a marked increase in multiple vertebral fractures, and, in some reports, elevated mortality.
Ko‐Hsiu Lu, Renn‐Chia Lin, Ing‐Lin Chang, Shau‐Huai Fu, Meng‐Ying Tsai, Shun‐Fa Yang   +5 more
wiley   +1 more source

Uncovering Coenzyme Q10‐Related Genetic Determinants of Statin‐Associated Muscle Symptoms: Evidence from the UK Biobank and the All of Us Research Program

Clinical Pharmacology &Therapeutics, EarlyView.
Statin‐associated muscle symptoms (SAMS) are frequent adverse effects of statin therapy and have been hypothesized to result from impaired coenzyme Q10 (CoQ10) biosynthesis. Although genetic determinants of CoQ10 levels have been reported, genome‐wide association studies (GWASs) conducted specifically in statin users are lacking. Moreover, direct CoQ10
Da Hoon Lee, Yoon‐A Park, Yubin Song, Ji‐Min Han, Kyung Hee Choi, Myeong Gyu Kim, Hye Sun Gwak   +6 more
wiley   +1 more source

Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation

Frontiers in Immunology, 2021
A growing number of monogenic immune-mediated diseases have been related to genes involved in pathways of actin cytoskeleton remodeling. Increasing evidences associate cytoskeleton defects to autoinflammatory diseases and primary immunodeficiencies.
Riccardo Papa, Federica Penco, Stefano Volpi, Marco Gattorno   +3 more
doaj   +1 more source

Dapagliflozin alleviates high‐fat‐induced obesity cardiomyopathy by inhibiting ferroptosis

ESC Heart Failure, Volume 12, Issue 2, Page 1358-1373, April 2025.
Abstract Aim: Dapagliflozin (Dapa) is a novel hypoglycaemic agent with multiple cardiovascular protective effects, and it is widely used in treatment of heart failure patients, but whether it can improve obese phenotype of heart failure and its mechanism is still unclear.
Di Chen, Jiahao Shi, Yue Wu, Lizhu Miao, Zilin Wang, Yixuan Wang, Siwei Xu, Yu Lou   +7 more
wiley   +1 more source

AA amyloidosis presenting with acute kidney injury, curable or not?

The Turkish Journal of Pediatrics, 2022
Background. Amyloidosis is a group of disorders with extracellular accumulation of autologous fibrillary insoluble proteins in various tissues and organs such as the kidneys, liver, spleen, heart and gastrointestinal tract leading to impairment of
Berfin Uysal, Berna Aytaç Vuruşkan
doaj   +1 more source

Rewiring nutrition: Chemical insights into the physiological and microbiological roles of food's microconstituents

Food Biomacromolecules, EarlyView.
Bidirectional interactions between food‐derived sensory compounds, gut sensing and microbiota, host physiological feedback, and metabolite production within the food matrix collectively shape sensory perception, microbial dynamics, and metabolic health.
Mohammad Nazrul Islam Bhuiyan
wiley   +1 more source

Outburst of Macrophage Activation Syndrome in Mevalonate Kinase Deficiency

, 2015
A comment on the Article by Schulert et al is provided by this paper dealing with mevalonate kinase ...
Donato Rigante, Rigante, Donato
core   +1 more source

Increased core body temperature exacerbates defective protein prenylation in mouse avatars of mevalonate kinase deficiency

bioRxiv, 2022
Mevalonate kinase deficiency (MKD) is caused by biallelic loss-of-function mutations in MVK, leading to recurrent fevers and systemic inflammation. We describe new mouse avatars of MKD bearing p.Val377Ile (the commonest variant) or deletions in Mvk ...
Marcia A. Munoz, Oliver Skinner, Etienne Masle-Farquhar, J. Jurczyluk, Ya Xiao, E. Fletcher, E. Kristianto, Mark P. Hodson, S. O’Donoghue, Sandeep Kaur, R. Brink, David Zahra, E. Deenick, Kristen J Perry, A. A. Robertson, S. Mehr, P. Hissaria, C. Mulders-Manders, Anna Simon, M. J. Rogers   +19 more
semanticscholar   +1 more source