Results 51 to 60 of about 1,800 (193)
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria [PDF]
, 2017 Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional ...
Baker, Tania +14 more
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Tyrosinemia type I: an unusual case presentation
Journal of Biochemical and Clinical Genetics, 2022 Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction.
Marwa ALMahroos, Mohammed AlMannai
doaj +1 more source
, 2013 Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA).
Bukhari, Marwan +2 more
core +1 more source
Comet assay to measure DNA repair: approach and applications [PDF]
, 2014 Cellular repair enzymes remove virtually all DNA damage before it is fixed; repair therefore plays a crucial role in preventing cancer. Repair studied at the level of transcription correlates poorly with enzyme activity, and so assays of phenotype are ...
Amaya Azqueta +4 more
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Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots [PDF]
Clinical Chemistry, 2008 Abstract Background: Tyrosinemia type I (TYR 1) is a disorder causing early death if left untreated. Newborn screening (NBS) for this condition is problematic because determination of the diagnostic marker, succinylacetone (SUAC), requires a separate first-tier or only partially effective second-tier analysis based on tyrosine ...
Coleman, Turgeon +8 more
openaire +2 more sources
Oncometabolite modification of Keap1 links GSTZ1 deficiency with cancer
Genes and Diseases, 2019 Metabolic abnormalities are emerging as an active driver to the development, progression and metastasis of various tumors. In the recent issue of the EMBO Journal, Yang and colleagues identified that succinylacetone (SA) could act as an oncometabolite ...
Weijie Guo, Binhua P. Zhou
doaj +1 more source
Diagnostic pitfalls in neonatal hypertyrosinemia: a case report
Life Sciences, Medicine and Biomedicine, 2023 Hypertyrosinemia results from abnormality in tyrosine metabolism. Acquired hypertyrosinemia is notably more common than inherited types and typically presents with profile suggestive of secondary aetiology on biochemical testing.
Karniza Khalid +5 more
doaj +1 more source
Structural studies of substrate and product complexes of 5-aminolaevulinic acid dehydratase from humans, Escherichia coli and the hyperthermophile Pyrobaculum calidifontis [PDF]
, 2017 A number of X-ray analyses of an enzyme involved in a key early stage of tetrapyrrole biosynthesis are reported. Two structures of human 5-aminolaevulinate dehydratase (ALAD), native and recombinant, have been determined at 2.8 Å resolution, showing that
Ajioka +79 more
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Frontiers in Nutrition, 2023 Tyrosine metabolism has an intense role in the synthesis of neurotransmitters. Our study used an untargeted, sportomics-based analysis of urine samples to investigate changes in metabolism during a soccer match in 30 male junior professional soccer ...
Thássia Casado Lima França +11 more
doaj +1 more source
Neurotoxicity and aggressiveness triggered by low-level lead in children: a review [PDF]
, 2009 Lead-induced neurotoxicity acquired by low-level long-term exposure has special relevance for children. A plethora of recent reports has demonstrated a direct link between low-level lead exposure and deficits in the neurobehavioral-cognitive performance ...
BECHARA, Etelvino José Henriques +3 more
core +1 more source