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Structural and Dynamic Assessment of Disease-Causing Mutations for the Carnitine Transporter OCTN2.
Mol Inform
January 2025
Institute of Pharmaceutical and Medicinal Chemistry, University of Münster, Corrensstr. 48, 48149, Muenster, Germany.
Primary carnitine deficiency (PCD) is a rare autosomal recessive genetic disorder caused by missense mutations in the SLC22A5 gene encoding the organic carnitine transporter novel type 2 (OCTN2). This study investigates the structural consequences of PCD-causing mutations, focusing on the N32S variant. Using an alpha-fold model, molecular dynamics simulations reveal altered interactions and dynamics suggesting potential mechanistic changes in carnitine transport.
View Article and Find Full Text PDFCharacterization of a novel conditional knockout mouse model to assess efficacy of mRNA therapy in the context of severe ornithine transcarbamylase deficiency.
Mol Ther
January 2025
Moderna, Inc., Cambridge, MA, USA 02142. Electronic address:
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder, characterized by hyperammonemia and accompanied by a high unmet patient need. mRNA therapies have been shown to be efficacious in hypomorphic Sparse-fur abnormal skin and hair (Spf-ash) mice, a model of late-onset disease. However, studying the efficacy of ornithine transcarbamylase (OTC) mRNA therapy in traditional knockout mice, a model for severe early-onset OTCD, is hampered by the rapid lethality of the model, and poor lipid nanoparticle (LNP) uptake into neonatal mouse liver.
View Article and Find Full Text PDFβ-Catenin/c-Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations.
Adv Biol (Weinh)
January 2025
Laboratory of Clinical Proteomic, "V Fazzi" Hospital, Lecce, 73100, Italy.
Ammonia a by-product of nitrogen containing molecules is detoxified by liver into non-toxic urea and glutamine. Impaired ammonia detoxification leads to hyperammonemia. Ammonia has a dual role on autophagy, it acts as inducer at low concentrations and as inhibitor at high concentrations.
View Article and Find Full Text PDFPositive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.
J Inherit Metab Dis
January 2025
Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Liver transplantation (LTx) is increasingly used in Urea Cycle Defects (UCDs) to prevent recurrent hyperammonemia and related neurological irreversible injury. Among UCDs, argininosuccinate lyase deficiency (ASLD) has a more complex phenotype than other UCDs, with long-term neurocognitive deficits. Therefore, the role of LTx in ASLD is still debated.
View Article and Find Full Text PDFUndiagnosed partial ornithine transcarbamylase deficiency presenting as recurrent hyperammonaemic encephalopathy after capecitabine administration.
BMJ Case Rep
January 2025
Internal Medicine, Carolinas Medical Center, Charlotte, North Carolina, USA.
Capecitabine is a widely used drug for cancer treatment. Capecitabine is a derivative of 5-fluorouracil (5-FU). A known complication of 5-FU is hyperammonaemia which can cause encephalopathy.
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