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Mitochondrial epigenetics brings new perspectives on doubly uniparental inheritance in bivalves.
Sci Rep
December 2024
Department of Biological Sciences, Université de Montréal, Montréal, QC, Canada.
Mitochondrial epigenetics, particularly mtDNA methylation, is a flourishing field of research. MtDNA methylation appears to play multiple roles, including regulating mitochondrial transcription, cell metabolism and mitochondrial inheritance. In animals, bivalves with doubly uniparental inheritance (DUI) of mitochondria are the exception to the rule of maternal mitochondrial inheritance since DUI also involve a paternal mtDNA transmitted from the father to sons.
View Article and Find Full Text PDFA crucial active site network of titratable residues guides catalysis and NAD binding in human succinic semialdehyde dehydrogenase.
Protein Sci
January 2025
Department of Neuroscience, Biomedicine and Movement Sciences, Section of Biochemistry, University of Verona, Verona, Italy.
Human succinic semialdehyde dehydrogenase is a mitochondrial enzyme fundamental in the neurotransmitter γ-aminobutyric acid catabolism. It catalyzes the NAD-dependent oxidative degradation of its derivative, succinic semialdehyde, to succinic acid. Mutations in its gene lead to an inherited neurometabolic rare disease, succinic semialdehyde dehydrogenase deficiency, characterized by mental and developmental delay.
View Article and Find Full Text PDFHyperreactive B cells instruct their elimination by T cells to curb autoinflammation and lymphomagenesis.
Immunity
December 2024
Institute of Experimental Hematology, School of Medicine, Technical University of Munich, 81675 Munich, Germany; Center for Translational Cancer Research (TranslaTUM), School of Medicine, Technical University of Munich, 81675 Munich, Germany; German Cancer Consortium (DKTK), 69120 Heidelberg, Germany; Max-Planck Institute of Biochemistry, 82152 Planegg, Germany. Electronic address:
B cell immunity carries the inherent risk of deviating into autoimmunity and malignancy, which are both strongly associated with genetic variants or alterations that increase immune signaling. Here, we investigated the interplay of autoimmunity and lymphoma risk factors centered around the archetypal negative immune regulator TNFAIP3/A20 in mice. Counterintuitively, B cells with moderately elevated sensitivity to stimulation caused fatal autoimmune pathology, while those with high sensitivity did not.
View Article and Find Full Text PDFEvaluation of discrepancy between clot-based and chromogenic factor IX coagulation assays in non-severe hemophilia B patients and identification of the causing mutations.
Transfus Apher Sci
December 2024
Department of Hematology and Blood Banking, Faculty of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran. Electronic address:
Background: Hemophilia B, or Christmas disease, is a hemorrhagic inherited disorder. Previous studies have reported measurement discrepancies in factor VIII activity between clot-based and chromogenic assays in approximately one-third of patients with non-severe hemophilia A. However, similar discrepancies in hemophilia B have been less extensively studied.
View Article and Find Full Text PDFAging through the lens of mitochondrial DNA mutations and inheritance paradoxes.
Biogerontology
December 2024
Second Affiliated Hospital of Heilongjiang University of Chinese Medicine, Harbin, China.
Mitochondrial DNA encodes essential components of the respiratory chain complexes, serving as the foundation of mitochondrial respiratory function. Mutations in mtDNA primarily impair energy metabolism, exerting far-reaching effects on cellular physiology, particularly in the context of aging. The intrinsic vulnerability of mtDNA is increasingly recognized as a key driver in the initiation of aging and the progression of its related diseases.
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