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Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report
BackgroundMaffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas,...
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Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency
BackgroundPrevious work has identified age-related negative correlations for γ-hydroxybutyric acid (GHB) and γ-aminobutyric acid (GABA) in plasma of...
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MTHFD2 in healthy and cancer cells: Canonical and non-canonical functions
Methylenetetrahydrofolate dehydrogenase 2 (MTHFD2) is a mitochondrial enzyme of the folate-mediated one-carbon metabolism pathway. MTHFD2 has become...
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Oncogenic metabolic reprogramming in breast cancer: focus on signaling pathways and mitochondrial genes
Oncogenic metabolic reprogramming impacts the abundance of key metabolites that regulate signaling and epigenetics. Metabolic vulnerability in the...
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Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?
BackgroundMedium-chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is the most frequent fatty acid oxidation (FAO) defect in humans....
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The functional roles of TCA cycle metabolites in cancer
The tricarboxylic acid cycle (TCA cycle) has been known for decades as a hub for generating cellular energy and precursors for biosynthetic pathways....
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Ivosidenib: A Review in Advanced Cholangiocarcinoma
Ivosidenib (Tibsovo ® ), a first-in-class, oral small molecule, potent and selective inhibitor of mutant isocitrate dehydrogenase 1 (mIDH1), is...
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L-2hydroxyglutaric acid rewires amino acid metabolism in colorectal cancer via the mTOR-ATF4 axis
Oncometabolites, such as D/L-2-hydroxyglutarate (2HG), have directly been implicated in carcinogenesis; however, the underlying molecular mechanisms...
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Liver metabolomics reveals potential mechanism of Jieduan-Niwan formula against acute-on-chronic liver failure (ACLF) by improving mitochondrial damage and TCA cycle
BackgroundAcute-on-chronic liver failure (ACLF) is a refractory disease with high mortality, which is characterized by a pathophysiological process...
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Redox homeostasis dysregulation in noise-induced hearing loss: oxidative stress and antioxidant treatment
Noise exposure is an important cause of acquired hearing loss. Studies have found that noise exposure causes dysregulated redox homeostasis in...
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Associations of liver function with plasma biomarkers for Alzheimer’s Disease
BackgroundBlood-based biomarkers for Alzheimer’s disease (AD) are promising to be used in clinical settings. The liver is an important degradation...
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Metabolic mechanisms in physiological and pathological cardiac hypertrophy: new paradigms and challenges
Cardiac metabolism is vital for heart function. Given that cardiac contraction requires a continuous supply of ATP in large quantities, the role of...
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Optimizing Patient Pathways in Advanced Biliary Tract Cancers: Recent Advances and a French Perspective
Biliary tract cancers (BTCs) are a heterogeneous group of tumors that are rare in Western countries and have a poor prognosis. Three subgroups are...
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Oncometabolites in cancer: from cancer cells to the tumor microenvironment
Oncometabolites refer to pro-oncogenic metabolites that are aberrantly accumulated due to distorted metabolic pathways in cancer cells, and play a...
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Exploring the potential of asparagine restriction in solid cancer treatment: recent discoveries, therapeutic implications, and challenges
Asparagine is a non-essential amino acid crucial for protein biosynthesis and function, and therefore cell maintenance and growth. Furthermore, this...
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Genomic medicine advances for brain tumors
Cancer genome profiling has revealed important genetic alterations that serve as prognostic indicators and guides for treatment decisions, enabling...
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Isocitrate dehydrogenase 1 mutation enhances 24(S)-hydroxycholesterol production and alters cholesterol homeostasis in glioma
Isocitrate dehydrogenase (IDH) mutation is the most important initiating event in gliomagenesis, and the increasing evidence shows that IDH mutation...
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D-mannose alleviates intervertebral disc degeneration through glutamine metabolism
BackgroundIntervertebral disc degeneration (IVDD) is a multifaceted condition characterized by heterogeneity, wherein the balance between catabolism...
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Unveiling the metabolic landscape of pulmonary hypertension: insights from metabolomics
Pulmonary hypertension (PH) is regarded as cardiovascular disease with an extremely poor prognosis, primarily due to irreversible vascular...
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The role of TET2 in solid tumors and its therapeutic potential: a comprehensive review
Indeed, tumors are a significant health concern worldwide, and understanding the underlying mechanisms of tumor development is crucial for effective...
