Results 61 to 70 of about 4,456 (149)

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, Volume 120, Issue 2, Page 475-483, August 2026.
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

Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature

The Turkish Journal of Pediatrics, 2012
The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme.
Pınar Gençpınar, Balahan B Makay, Marco Gattorno, Francesco Caroli, Erbil Ünsal   +4 more
doaj  

Histopathologic features in a case of hyperimmunoglobulinemia D syndrome

Indian Dermatology Online Journal, 2015
We describe a case of Mevalonate Kinase Deficiency (MKD) also known as Hyperimmunoglobulinemia D Syndrome (HIDS) presenting as a Sweet-like syndrome in a 5-week-old with multiple erythematous plaques, fever, aseptic meningitis, and bronchiolitis.
Sarah Pace, Jonathan Bingham, Michael Royer   +2 more
doaj   +1 more source

Myocardial Lipid Metabolism Imbalance: The Pathological Core and Novel Diagnostic‐Therapeutic Directions of Cardiovascular Diseases

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
In cardiac cells, Plin5/AMPK regulate lipid homeostasis; excess CD36‐mediated uptake drives lipotoxicity, mitochondrial dysfunction, and CVDs (e.g., heart failure). Biomarkers (ApoB/ApoA‐1) and therapies (SGLT2 inhibitors) target this cascade. ABSTRACT Cardiac lipid metabolism is fundamental to myocardial energy homeostasis, with fatty acid oxidation ...
Peiyun Xie, Qun Zeng, Hongrui Wang, Meihua She   +3 more
wiley   +1 more source

Repercussions of Diagnostic Delay in Rare Diseases

Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.
ABSTRACT Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences.
Luisa Rezende Batista, Luiza Fernandes Valente, Fernando Spina, Davi Said Gonçalves Celso, Israel Gomy, Christiane Mariotini‐Moura   +5 more
wiley   +1 more source

Isothiocyanates as Ferroptosis Inducers to Promote Cancer Cell Death

Phytotherapy Research, Volume 40, Issue 8, Page 5119-5131, August 2026.
ABSTRACT Cancer remains a leading cause of global mortality, with the therapeutic efficacy of anticancer drugs often hampered by late diagnosis and the development of chemotherapy resistance. Ferroptosis is an iron‐dependent form of regulated non‐apoptotic cell death driven by lipid peroxidation.
Valentina Citi, Renda Chahna, Francesca Maffei, Alma Martelli, Vincenzo Calderone, Carmela Fimognari, Eleonora Turrini   +6 more
wiley   +1 more source

Jiuwei Xiaozhi Decoction Alleviates High‐Fat Diet‐Induced MASLD by Suppressing Hepatic SREBP2‐Driven Cholesterogenesis and Restoring PPARα‐Mediated Fatty Acid Oxidation

Chemical Biology &Drug Design, Volume 108, Issue 2, August 2026.
Studies have found that Jiuwei Xiaozhi Decoction can improve high‐fat diet‐induced fatty liver disease, mainly by regulating the SREBP2 and PPARα pathways to balance hepatic lipid metabolism while reducing inflammatory responses. ABSTRACT Jiuwei Xiaozhi Decoction (JWXZ) is a nine‐herb traditional Chinese medicine formula clinically used for hepatic ...
Youcheng Ma, Xinrui Gao, Ji Wang, Lingru Li, Zhen Huang, Fangli Li   +5 more
wiley   +1 more source

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

The FEBS Journal, Volume 293, Issue 15, Page 4554-4577, August 2026.
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo, Lorenza Driul, Vanessa Tolotto, Eros Di Giorgio, Luigi E. Xodo   +4 more
wiley   +1 more source

Towards an integrated molecular understanding of plant hormones

Journal of Integrative Plant Biology, Volume 68, Issue 8, Page 2787-2826, August 2026.
This review offers a comprehensive overview of the nine plant hormones, delving into their biosynthesis, transport, signaling and crosstalk mechanisms. Because the complexity of plant hormonal control goes beyond these core elements, additional specific features are discussed. Lastly, this review highlights how fundamental insights drive hormonal‐based
Louise Vilain, Marie‐Laure Fauconnier, Manon Genva   +2 more
wiley   +1 more source

Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype

Frontiers in Immunology
ObjectiveBi-allelic pathogenic variants in the MVK gene, which encodes mevalonate kinase (MK), an essential enzyme in isoprenoid biosynthesis, cause the autoinflammatory metabolic disorder mevalonate kinase deficiency (MKD).
Frouwkje A. Politiek, Frouwkje A. Politiek, Marjolein Turkenburg, Rob Ofman, Hans R. Waterham, Hans R. Waterham, Hans R. Waterham   +6 more
doaj   +1 more source