Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Identification of a biallelic MMUT variant (p.Thr230Arg) and its global perspective on clinical management.
Mol Biol Rep
December 2024
Translational Genomics Laboratory, COMSATS University Islamabad, Taramri Chock, Park Road, Islamabad, 45550, Pakistan.
Background: Methylmalonic acidemia (MMA), type mut (0) is a rare type of genetic inborn error of metabolism (IEM) that is caused by aberrant malonyl-CoA mutase activity. Diagnosing IEM can be challenging due to its inherited onset and varying degrees of severity.
Methods And Results: In the present study, a consanguineous Pakistani family suspected of IEM was genetically analyzed using whole exome sequencing.
Zinc-alpha2-glycoprotein modulates blood pressure by regulating renal lipid metabolism reprogramming-mediated urinary Na+ excretion in hypertension.
Cardiovasc Res
December 2024
Research Center for Metabolic and Cardiovascular Diseases, The Third Affiliated Hospital of Chongqing Medical University, No. 1, Shuanghu Branch Road, Yubei District, 401120 Chongqing, PR China.
Article Synopsis
- The study explores the role of Zinc-alpha2-glycoprotein (ZAG) in hypertension, focusing on its relationship with blood pressure regulation and metabolic disorders.
- Researchers found that hypertensive participants had lower serum ZAG levels, and experiments with Azgp1-/- mice showed increased blood pressure linked to impaired sodium excretion and altered renal lipid metabolism.
- Interventions, including ZAG protein administration and NHE inhibitors, demonstrated potential therapeutic avenues for improving blood pressure and sodium handling in hypertension.
Biosynthesis of Hesperetin, Homoeriodictyol, and Homohesperetin in a Transcriptomics-Driven Engineered Strain of .
Int J Mol Sci
April 2024
Research Group BIONUC (Biotechnology of Nutraceuticals and Bioactive Compounds), Area of Microbiology, Department of Functional Biology, University of Oviedo, 33006 Oviedo, Principality of Asturias, Spain.
Flavonoids exhibit various bioactivities including anti-oxidant, anti-tumor, anti-inflammatory, and anti-viral properties. Methylated flavonoids are particularly significant due to their enhanced oral bioavailability, improved intestinal absorption, and greater stability. The heterologous production of plant flavonoids in bacterial factories involves the need for enough biosynthetic precursors to allow for high production levels.
View Article and Find Full Text PDFCorrigendum: A case of malonyl coenzyme a decarboxylase deficiency with novel mutations and literature review.
Front Pediatr
November 2023
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
[This corrects the article DOI: 10.3389/fped.2023.
View Article and Find Full Text PDFCardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review.
Eur J Med Genet
December 2023
Institute of Cardiovascular Science, University College of London, London, UK; Barts Health NHS Trust, London, UK.
Background: Malonyl-CoA decarboxylase deficiency (MLYCDD) is an ultra-rare inherited metabolic disorder, characterized by multi-organ involvement manifesting during the first few months of life. Our aim was to describe the clinical, biochemical, and genetic characteristics of patients with later-onset MLYCDD.
Methods: Clinical and biochemical characteristics of two patients aged 48 and 29 years with a confirmed molecular diagnosis of MLYCDD were examined.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!