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Atrial Fibrillation Related Titin Truncation Is Associated With Atrial Myopathy in Patient-Derived Induced Pluripotent Stem Cell Disease Models.
Circ Genom Precis Med
January 2025
Centre for Heart Lung Innovation, University of British Columbia, Vancouver. (K.H., M.A., L.R., Y.L., A.S., H.H., L.R.B., Z.W.L.).
Background: Protein-truncating mutations in the titin gene are associated with increased risk of atrial fibrillation. However, little is known about the underlying pathophysiology.
Methods: We identified a heterozygous titin truncating variant (TTNtv) in a patient with unexplained early onset atrial fibrillation and normal ventricular function.
Preparation, structural property, and antioxidant activities of a novel pectin polysaccharide from the flowers of Linn.
Front Nutr
January 2025
Prefabricated Dish Industry Development Research Institute, Zhejiang Dong Fang Polytechnic, Wenzhou, China.
Introduction: Oxidative stress, triggered by an imbalance between reactive oxygen species (ROS) production and cellular antioxidant defense mechanisms, is implicated in various pathological conditions. Plant-derived polysaccharides have gained significant attention as potential natural antioxidants due to their biocompatibility, biodegradability, and structural versatility.
Methods: This study focuses on the purification, structural characterization, and antioxidant activities of a novel pectin polysaccharide (HFPS) isolated from the flowers of Linn.
Understanding pectin cross-linking in plant cell walls.
Commun Biol
January 2025
Department of Chemistry, University of Warwick, Coventry, UK.
Pectin is a major component of plant cells walls. The extent to which pectin chains crosslink with one another determines crucial properties including cell wall strength, porosity, and the ability of small, biologically significant molecules to access the cell. Despite its importance, significant gaps remain in our comprehension, at the molecular level, of how pectin cross-links influence the mechanical and physical properties of cell walls.
View Article and Find Full Text PDFCurcumin mimics of potential chemoprevention with NQO1 induction properties.
Sci Rep
January 2025
Department of Pesticide Chemistry, National Research Centre, Dokki, 12622, Giza, Egypt.
Chemoprevention is one of the accessible strategies for preventing, delaying or reversing cancer processing utilizing chemical intervention of carcinogenesis. NAD(P)H quinone oxidoreductase 1 (NQO1) is a xenobiotic metabolizing cytosolic enzyme/protein with important functional properties towards oxidation stress, supporting its ability in detoxification/chemoprotective role. A set of 3,5-diylidene-4-piperidones (as curcumin mimics) bearing alkyl sulfonyl group were synthesized with potential NQO1 induction properties.
View Article and Find Full Text PDFMetabolic cardiomyopathy associated with a compound heterozygous variant in NAD(P)HX dehydratase: a case report and literature review.
Transl Pediatr
December 2024
Department of Pediatric Intensive Care Unit, National Regional Medical Center, Guizhou Branch of Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Guizhou Provincial People's Hospital, Guiyang, China.
Background: Metabolic cardiomyopathy is characterized by structural and functional changes to the heart and interstitial fibrosis without coronary artery disease or hypertension. Inborn metabolic defects are a common cause of cardiomyopathy in children. There are more than 40 kinds of inborn metabolic defects that cause cardiomyopathy.
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