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Case Series of Anesthetic Management of Gene Therapy in Children With Aromatic L-Amino Acid Decarboxylase Deficiency.
Paediatr Anaesth
January 2025
Department of Anaesthesiology, Adolphe de Rothschild Foundation Hospital, Paris, France.
Background: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare life-threatening inborn error of neurotransmitter biosynthesis. It is characterized by deficient biosynthesis of neurotransmitters dopamine and serotonin, leading to catecholamines deficiency and sympathetic deprivation, while the parasympathetic system remains functional. Since 2012, gene therapy has led to clinical improvements in symptoms and motor function with a severe phenotype.
View Article and Find Full Text PDFContinuous carbon source supply is essential for high rifamycin productivity of in nitrate-stimulated fermentation revealed by a metabolomic study.
Acta Biochim Biophys Sin (Shanghai)
January 2025
CAS Key Laboratory of Synthetic Biology, CAS Center for Excellence in Molecular Plant Sciences, Chinese Academy of Sciences (CAS), Shanghai 200032, China.
U32 is an industrial strain capable of producing therapeutically useful rifamycin SV. In early days of fermentation studies, nitrate was found to increase the yield of rifamycin along with globally, affecting both carbon and nitrogen metabolism in favor of antibiotic biosynthesis; thus, the (NSE) hypothesis was proposed. Although GlnR is likely the master regulator of the pleotropic effect of NSE, the global metabolism affected by NSE has never been systematically examined.
View Article and Find Full Text PDFTrue ileal amino acid digestibility and digestible indispensable amino acid scores (DIAASs) of cooked tropical peas.
Food Res Int
February 2025
Université Clermont Auvergne, INRAE, UNH, F-63000 Clermont-Ferrand, France. Electronic address:
Tropical peas can be used as both animal feed and human food but the nutritional quality of their proteins for humans is currently poorly documented. Here, 3 varieties of tropical peas were studied at two stages of seed maturity (green or dry): Cajanus Cajan (CC), Vigna Unguiculata (VU) and Lablab Purpureus (LP). Pea seeds were prepared traditionally (soaking and cooking).
View Article and Find Full Text PDFEstimating health state utilities for aromatic L-amino acid decarboxylase deficiency (AADCd) in the United States.
Health Qual Life Outcomes
January 2025
PTC Therapeutics Inc, 500 Warren Corporate Center Drive, Warren, N.J, 07059, USA.
Background: AADCd is a rare neurometabolic disorder presenting in infancy. Children with AADCd have motor dysfunction and development delays that result in the need for lifelong care; quality of life is greatly impacted. Current characterizations of health-related quality of life and associated health state utilities (HSUs) may be underestimated in AADCd.
View Article and Find Full Text PDFDirected evolution of diacylglycerol acyltransferases 2 promotes lipids and triglyceride accumulation.
Plant Mol Biol
January 2025
College of Life Sciences, Northwest A & F University, Xi'an, 710000, China.
Triacylglycerol (TAG) is a major component of plant-neutral lipids. Diacylglycerol acyltransferase 2 (DGAT2) plays an important role in plant oil accumulation by catalyzing the final step of the Kennedy pathway. In this study, ten DGAT2 sequences were originating from different oil crops into the TAG-deficient yeast strain H1246, to compare their enzyme activity of oil synthesis and filter out potential amino acid residue sites for directed evolution.
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