Results 1 to 10 of about 160,391 (115)
Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate [PDF]
Orphanet Journal of Rare DiseasesBackground Later-onset urea cycle disorders (UCD) are characterized by variable clinical presentation and unpredictable metabolic decompensation.
Marco Spada, Francesco Porta
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Urea cycle dysregulation drives metabolic stress and neurodegeneration in Parkinson’s disease [PDF]
npj Parkinson's DiseaseParkinson’s disease (PD), common neurodegenerative disorder, involves substantia nigra dopaminergic neuron loss and α-synuclein accumulation in Lewy bodies. While pathogenesis remains unclear, dysregulated urea metabolism may play a central role.
Shengyao Zhang +10 more
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Dysregulation of the urea cycle – potential targets for treatment and diagnosis in prostate cancer [PDF]
Expert Reviews in Molecular MedicineBackground Prostate cancer (PCa) exhibits profound metabolic reprogramming, including dysregulation of the urea cycle (UC), an emerging driver of tumour growth, therapy resistance, and immune modulation.
Michael Ladurner +3 more
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Cardiac Urea Cycle Activation by Time‐Restricted Feeding Protects Against Pressure Overload‐Induced Heart Failure [PDF]
Advanced ScienceHeart failure is a leading cause of mortality worldwide, necessitating the development of novel therapeutic and lifestyle interventions. Recent studies highlight a potential role of time‐restricted feeding (TRF) in the prevention and treatment of cardiac
Yanzhen Tan +11 more
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Molecular Genetics and Metabolism Reports, 2021 Pathogenic variants in non-coding regions of genes encoding enzymes or transporters of the urea cycle can lead to urea cycle disorders (UCDs). However, not all commercially available testing platforms interrogate these regions. Here, we used a gene panel
Runjun D. Kumar +6 more
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Management of metabolic crisis in three-dayold newborn
Liječnički vjesnik, 2023 Urea cycle disorders are a group of metabolic disorders, caused by deficiency of one of the enzymes in the urea cycle, presenting with hyperammonemia triggered by catabolism or protein overload.
Tea Kržak +3 more
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Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study
Frontiers in Neurology, 2020 Ornithine transcarbamylase deficiency (OTCD) is the most common form of urea cycle disorder characterized by the presence of hyperammonemia (HA). In patients with OTCD, HA is known to cause impairments in domains of executive function and working memory.
Afrouz A. Anderson +4 more
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Modelling urea cycle disorders using iPSCs
npj Regenerative Medicine, 2022 The urea cycle is a liver-based pathway enabling disposal of nitrogen waste. Urea cycle disorders (UCDs) are inherited metabolic diseases caused by deficiency of enzymes or transporters involved in the urea cycle and have a prevalence of 1:35,000 live ...
Claire Duff, Julien Baruteau
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Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane
Frontiers in Physiology, 2021 Mitochondrial enzymes involved in energy transformation are organized into multiprotein complexes that channel the reaction intermediates for efficient ATP production.
Nantaporn Haskins +19 more
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Molecular Genetics and Metabolism Reports, 2016 Patients and families living with metabolic disorders face challenging dietary and drug treatment regimens. On the hypothesis that poor palatability, volume and frequency of drug/formula administration contribute to treatment non-adherence and ...
Oleg A. Shchelochkov +5 more
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