Results 31 to 40 of about 1,764 (178)
Metabolic Reprogramming in SARS-CoV-2 Infection Impacts the Outcome of COVID-19 Patients
Frontiers in Immunology, 2022 IntroductionSevere acute respiratory syndrome–coronavirus 2 (SARS-CoV-2) infection triggers inflammatory clinical stages that affect the outcome of patients with coronavirus disease 2019 (COVID-19).
Laura E. Martínez-Gómez +37 more
doaj +1 more source
Deconvoluting heme biosynthesis to target blood-stage malaria parasites [PDF]
, 2015 Heme metabolism is central to blood-stage infection by the malaria parasite Plasmodium falciparum. Parasites retain a heme biosynthesis pathway but do not require its activity during infection of heme-rich erythrocytes, where they can scavenge host heme ...
Crowley, Jan R +3 more
core +2 more sources
, 2022 Inherited disorders of tyrosine catabolism have been identified at five of the six enzymatic steps. Under normal conditions tyrosine concentrations are regulated by its synthetic enzyme (phenylalanine hydroxylase) and especially the first catabolic ...
Burlina, Alberto +2 more
core +3 more sources
Hereditary tyrosinemia. Formation of succinylacetone-amino acid adducts. [PDF]
The Journal of experimental medicine, 1985 Succinylacetone (SA) (4,6-dioxoheptanoic acid) is an abnormal metabolite produced in patients with hereditary tyrosinemia as a consequence of an inherited deficiency of fumaryl acetoacetate hydrolase activity. Patients with this disease are associated with a number of abnormalities, including aminoaciduria, proteinuria, liver failure, commonly hepatoma,
S, Manabe, S, Sassa, A, Kappas
openaire +2 more sources
A Novel Flow Cytometric HTS Assay Reveals Functional Modulators of ATP Binding Cassette Transporter ABCB6 [PDF]
, 2012 ABCB6 is a member of the adenosine triphosphate (ATP)-binding cassette family of transporter proteins that is increasingly recognized as a relevant physiological and therapeutic target. Evaluation of modulators of ABCB6 activity would pave the way toward
Bologa, Cristian G. +15 more
core +3 more sources
Liver-specific knockout of arginase-1 leads to a profound phenotype similar to inducible whole body arginase-1 deficiency [PDF]
, 2016 Arginase-1 (Arg1) converts arginine to urea and ornithine in the distal step of the urea cycle in liver. We previously generated a tamoxifen-inducible Arg1 deficient mouse model (Arg1-Cre) that disrupts Arg1 expression throughout the whole body and leads
Al-Dirbashi, Osama Y. +5 more
core +1 more source
Newborn Screening for Hepatorenal Tyrosinemia: Tandem Mass Spectrometric Quantification of Succinylacetone [PDF]
Clinical Chemistry, 2006 AbstractBackground: False-positive and false-negative results occur in current newborn-screening programs for hepatorenal tyrosinemia, which measure tyrosine concentrations in blood spots, sometimes in combination with other metabolites, including succinylacetone.
Johannes, Sander +9 more
openaire +2 more sources
Molecular Genetics and Metabolism Reports, 2022 Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase.
Hela Hajji +15 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2020 Background Previous work has identified age-related negative correlations for γ-hydroxybutyric acid (GHB) and γ-aminobutyric acid (GABA) in plasma of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD).
Trevor Kirby +11 more
doaj +1 more source
Frontiers in Genetics, 2022 Background: The purpose of the study was to investigate the levels of amino acids and acylcarnitines in newborns of the Tibet Autonomous Region for the first time and to provide an experimental basis for the diagnosis of genetic metabolic diseases ...
Chunyan Zhang +12 more
doaj +1 more source