Results 51 to 60 of about 2,442 (103)

Lysinuric protein intolerance: Unusual clinical manifestations in a compound heterozygote with a novel pathogenic variant. [PDF]

Biochem Biophys Rep
Pascual López JR, Wu W, Konczal L.
europepmc   +1 more source

Urea cycle defects in adulthood: clinical presentation, diagnosis and treatment in genetically encoded hepatic metabolic disorders with a potential for encephalopathy. [PDF]

Metab Brain Dis
Das AM.
europepmc   +1 more source

A <i>Campylobacter jejuni</i> sensor phosphatase-driven two-component system integrates metabolic phosphodonors as cues in signal transduction. [PDF]

Proc Natl Acad Sci U S A
Ruiz N, Hendrixson DR.
europepmc   +1 more source

A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system. [PDF]

Dis Model Mech
Bakshi S, Diep T, Willis BJ, Reyes R, Wu GF, Makris G, Poms M, Day I, Sun Q, Zhuravka I, Lueptow L, Tang M, Cromie GA, Dudley AM, Häberle J, Lipshutz GS.   +15 more
europepmc   +1 more source

Urea cycle dysregulation: a new frontier in cancer metabolism and immune evasion. [PDF]

Cell Commun Signal
Shou Y, Liu R, Xiong H, Xu K, Chen X, Huang L, Zhang Y, Sheng H, Zhang H, Lu Y.   +9 more
europepmc   +1 more source

Unravelling the Molecular Responses of the Yeast <i>Schwanniomyces etchellsii</i> to Hyperosmotic Stress in Seawater Medium Using Omic Approaches. [PDF]

Int J Mol Sci
Andreu C, Obis È, Del Olmo ML.
europepmc   +1 more source

Unveiling the importance of SIRT5 for cardiac health and disease in an era of increasing longevity. [PDF]

Geroscience
Grzeczka A, Graczyk S, Kordowitzki P.
europepmc   +1 more source

Mechanistic Insights into the Inhibition of <i>Yersinia enterocolitica</i> Biofilm Formation by Lipoic Acid. [PDF]

Microorganisms
Liao S, Yang S, Gong G, Liu Z, Zhang J, Li H, Sun Q, Mo H, Hu L, Tian L.   +9 more
europepmc   +1 more source

Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease. [PDF]

N Engl J Med
Musunuru K, Grandinette SA, Wang X, Hudson TR, Briseno K, Berry AM, Hacker JL, Hsu A, Silverstein RA, Hille LT, Ogul AN, Robinson-Garvin NA, Small JC, McCague S, Burke SM, Wright CM, Bick S, Indurthi V, Sharma S, Jepperson M, Vakulskas CA, Collingwood M, Keogh K, Jacobi A, Sturgeon M, Brommel C, Schmaljohn E, Kurgan G, Osborne T, Zhang H, Kinney K, Rettig G, Barbosa CJ, Semple SC, Tam YK, Lutz C, George LA, Kleinstiver BP, Liu DR, Ng K, Kassim SH, Giannikopoulos P, Alameh MG, Urnov FD, Ahrens-Nicklas RC.   +44 more
europepmc   +1 more source

A Pair of Promiscuous Surrogates for <i>N</i>-Acetyl-l-Glutamate Synthase, the Initial Enzyme of Bacterial Arginine Biosynthesis. [PDF]

Biochemistry
Reid CZ, Dombroski AN, Basistyi VS, Desai KK, Miller BG.   +4 more
europepmc   +1 more source