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您的检索式：作者名="Javier Cervera"
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| 1 | The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle显示文摘Carbamoyl phosphate synthetase 1(CPS1) deficiency(CPS1D) is an inborn error of the urea cycle having autosomal(2q34) recessive inheritance that can cause hyperammonemia and neonatal death or mental retardation. We analyzed the effects on CPS1 activity, kinetic parameters and enzyme stability of missense mutations reported in patients with CPS1 deficiency that map in the 20-k Da C-terminal domain of the enzyme. This domain turns on or off the enzyme depending on whether the essential allosteric activator of CPS1, N-acetylL-glutamate(NAG), is bound or is not bound to it. To carry out the present studies, we exploited a novel system that allows the expression in vitro and the purification of human CPS1, thus permitting site-directed mutagenesis. These studies have clarified disease causation by individual mutations, identifying functionally important residues, and revealing that a number of mutations decrease the affinity of the enzyme for NAG. Patients with NAG affinity-decreasing mutations might benefit from NAG site saturation therapy with N-carbamyl-Lglutamate(a registered drug, the analog of NAG). Our results, together with additional present and prior site-directed mutagenesis data for other residues mapping in this domain, suggest an NAG-triggered conformational change in the b4-a4 loop of the C-terminal domain of this enzyme. This change might be an early event in the NAG activation process. Molecular dynamics simulations that were restrained according to the observed effects of the mutations are consistent with this hypothesis, providing further backing for this structurally plausible signaling mechanism by which NAG could trigger urea cycle activation via CPS1. | Carmen Díez-Fernández José Gallego Johannes H?berle Javier Cervera Vicente Rubio | 2015 | Journal of Genetics and Genomics2015，42，5： | 7 |
| 2 | Troponin-T is a calcium-binding protein in insect muscle: in vivo phosphorylation, muscle-specific isoforms and developmental profile in Drosophila melanogaster显示文摘 | Alberto Domingo Juan Gonza′Lez-Jurado Miguel Maroto Carlos Di′az Javier Vino′s Carolina Carrasco Margarita Cervera Roberto Marco | 1998 | Journal of Muscle Research and Cell Motility1998，，4： | 1 |
| 3 | Thermo-chemo-mec-hanical Model for Concrete Hydration and Aging显示文摘 | Cervera Miguel Oliver Javier Prato Tomas | 1999 | Journal of Engineering Mechanics1999，125，9： | 1 |
| 4 | Paracentral acute middle maculopathy after diagnostic cerebral angiography in a patient with a contralateral carotid-cavernous fistula显示文摘Dear Editor, I am Dr. Lidia Remolí Sargues from Consorcio Hospital General Universitario of Valencia. We write to present a case of paracentral acute middle maculopathy(PAMM) in a patient with a contralateral carotid-cavernous fistula(CCF) after cerebral diagnostic angiography. | Lidia Remoli Sargues Javier Montero Hernández Clara Monferrer Adsuara Nuria Gonzalez Giron Alicia Gracia Garcia Veronica Castro Navarro Enrique Cervera Taulet | 2022 | International Journal of Ophthalmology(English edition)2022，15，11： | 0 |
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