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Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.
Mol Med
January 2025
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Background: Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment for lysinuric protein intolerance involves a low-protein diet and citrulline supplementation. While this approach partially improves cationic amino acid plasma levels and alleviates some symptoms, long-term treatment is suggested to be detrimental and may lead to life-threatening complications characterized by a wide range of hematological and immunological abnormalities.
View Article and Find Full Text PDFMARCH5 ameliorates aortic valve calcification via RACGAP1-DRP1 pathway associated mitochondrial quality control.
Biochim Biophys Acta Mol Cell Res
January 2025
Laboratory of Cardiac Structure and Function, Institute of Cardiovascular Diseases, West China Hospital, Sichuan University, Chengdu 610041, PR China; Department of Cardiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China; Cardiac Structure and Function Research Key Laboratory of Sichuan Province, West China Hospital, Sichuan University, Chengdu 610041, PR China. Electronic address:
Background: Mitochondrial E3 ubiquitin ligase (MARCH5) as an important regulator in maintaining mitochondrial function. Our aims were to investigate the role and mechanism of MARCH5 in aortic valve calcification.
Methods: Human aortic valves, both calcified and non-calcified, were analyzed for MARCH5 expression using western blot.
Is There a Need to Reassess Protein Intake Recommendations Following Metabolic Bariatric Surgery?
Curr Obes Rep
January 2025
Department of Nutrition Sciences, School of Health Sciences, Ariel University, Ariel, Israel.
Purpose Of Review: Protein intake is recognized as a key nutritional factor crucial for optimizing Metabolic Bariatric Surgery (MBS) outcomes by preventing protein malnutrition, preserving fat-free mass, and inducing satiety. This paper discusses the current evidence regarding protein intake and its impact on clinical outcomes following MBS.
Recent Findings: There are considerable gaps in the understanding of protein requirements following MBS, as existing guidelines are based on limited and inconsistent reports.
Adaptive protein synthesis in genetic models of copper deficiency and childhood neurodegeneration.
Mol Biol Cell
January 2025
Department of Cell Biology, Emory University, 615 Michael St, Atlanta, GA, USA, 30322.
Rare inherited diseases caused by mutations in the copper transporters (CTR1) or induce copper deficiency in the brain, causing seizures and neurodegeneration in infancy through poorly understood mechanisms. Here, we used multiple model systems to characterize the molecular mechanisms by which neuronal cells respond to copper deficiency. Targeted deletion of CTR1 in neuroblastoma cells produced copper deficiency that produced a metabolic shift favoring glycolysis over oxidative phosphorylation.
View Article and Find Full Text PDFComprehensive evaluation of genomic and functional assays for homologous recombination deficiency with high-grade epithelial ovarian cancer: Platinum sensitivity and prognosis.
Int J Gynecol Cancer
January 2025
Fudan University Shanghai Cancer Center, Department of Gynecologic Oncology, Shanghai, China; Fudan University, Shanghai Medical College, Department of Oncology, Shanghai, China. Electronic address:
Objective: Homologous recombination deficiency assays, guiding treatment of poly (adenosine diphosphate ribose) polymerase inhibitors, are increasingly applied in clinics. This study aimed to evaluate the predictive performance of homologous recombination deficiency status at genomic and functional perspective on the efficacy of platinum-based chemotherapy in ovarian cancer.
Methods: Between 2016 and 2019, 134 patients with high-grade ovarian cancer were retrospectively analyzed.
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