Results 21 to 30 of about 1,800 (193)

Microglial SLC25A28 Knockout Mitigates Spinal Cord Injury in Mice by Inhibiting Heme Synthesis and Subsequent NOX2 Activation [PDF]

open access: yesCNS Neuroscience &Therapeutics, Volume 31, Issue 11, November 2025.
Microglial SLC25A28 knockout reduces spinal cord injury by inhibiting mitochondrial iron accumulation and heme synthesis, leading to decreased NOX2 activation and neuroinflammation. This study reveals the SLC25A28‐heme‐NOX2 axis as a key regulator of microglial‐driven secondary damage after SCI.
Huangtao Chen   +13 more
wiley   +2 more sources

Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1 [PDF]

open access: yesInternational Journal of Neonatal Screening
Hereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic comorbidities. Early detection of this disorder is possible with newborn screening (NBS).
Barbra Charina V. Cavan   +4 more
doaj   +2 more sources

Differential Mechanism of ATP Production Occurs in Response to Succinylacetone in Colon Cancer Cells [PDF]

open access: yesMolecules, 2019
Our aim was to verify the potential ability of succinylacetone (SA) to inhibit mitochondrial function, thereby suppressing cancer cell proliferation.
Phil Jun Lee   +4 more
doaj   +3 more sources

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes [PDF]

open access: yesOrphanet Journal of Rare Diseases
The third known case in the country of Tyrosinemia type 1 is presented, a 10-month-old male infant who was referred to the emergency room due to hepatomegaly, compromised liver function, neurological deterioration, and abnormal urinary amino acids ...
Michael Vallejo   +6 more
doaj   +2 more sources

1H NMR-based metabolomics approach to understanding the temperature-dependent pathogenicity of Lactococcus garvieae [PDF]

open access: yesInternational Journal of Aquatic Biology, 2019
Lactococcus garvieae is known as main agent of the bacterial diseases, Lactococcosis in trout farms. The present study was aimed to study the metabolic bases of the temperature-dependent pathogenicity of the L. garvieae using 1H NMR spectroscopy.
Nasim Safari Alighialo   +3 more
doaj   +3 more sources

Fumarylacetoacetate Hydrolase Regulates Seed Dormancy and Germination Through the Gibberellin Pathway in Arabidopsis [PDF]

open access: yesPlants
Tyrosine (Tyr) degradation is a crucial pathway in animals. However, its role in plants remains to be examined. Fumarylacetoacetate hydrolase (FAH) is the final enzyme involved in Tyr degradation. Studies of a mutant of the SHORT-DAY SENSITIVE CELL DEATH
Chao Hu   +4 more
doaj   +2 more sources

Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]

open access: yes, 1992
__Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim)   +1 more
core   +8 more sources

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

open access: yesInternational Journal of Neonatal Screening, 2020
Tyrosinemia type I (TT1) is an inborn error of tyrosine metabolism with features including liver dysfunction, cirrhosis, and hepatocellular carcinoma; renal dysfunction that may lead to failure to thrive and bone disease; and porphyric crises. Once fatal
Jessica R. C. Priestley   +8 more
doaj   +1 more source

Performance of succinylacetone assays and their associated proficiency testing outcomes [PDF]

open access: yesClinical Biochemistry, 2012
Succinylacetone (SUAC) is the primary metabolic marker for hepatorenal tyrosinemia.We used results reported for dried-blood-spot proficiency testing (PT) specimens and hepatorenal tyrosinemia patients' newborn screening (NBS) samples to demonstrate analytic biases in SUAC recoveries and differences in presumptive clinical classifications.SUAC ...
B W, Adam   +6 more
openaire   +2 more sources

Metabolic Reprogramming in SARS-CoV-2 Infection Impacts the Outcome of COVID-19 Patients

open access: yesFrontiers 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

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