Results 41 to 50 of about 2,195 (151)
The FEBS Journal, 2023 Hydroxymethylbilane synthase (HMBS), involved in haem biosynthesis, catalyses the head‐to‐tail coupling of four porphobilinogens (PBGs) via a dipyrromethane (DPM) cofactor. DPM is composed of two PBGs, and a hexapyrrole is built before the tetrapyrrolic 1‐hydroxymethylbilane product is released.
Helene J. Bustad +6 more
openaire +5 more sources
Many pitfalls in diagnosis of acute intermittent porphyria: a case report
BMC Research Notes, 2018 Background Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms.
N. L. R. Indika +13 more
doaj +1 more source
A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion
The Turkish Journal of Pediatrics, 2020 Background. Acute intermittent porphyria (AIP) is a rare, hereditary, metabolic disease caused by a defect in heme biosynthesis. Hormonal changes may trigger porphyria attacks. Case. Here we present a 17 -year- old adolescent refugee mother
Özlem Yüksel Aksoy +5 more
doaj +1 more source
Translational Psychiatry, 2023 Relapse is common in remitted patients with major depressive disorder (MDD). Arketamine, an (R)-enantiomer of ketamine, has persistent prophylactic actions in an inflammatory model of depression.
Li Ma +4 more
doaj +1 more source
PORPHOBILINOGEN DEAMINASE deficiency alters vegetative and reproductive development and causes lesions in Arabidopsis. [PDF]
PLoS ONE, 2013 The Arabidopsis rugosa1 (rug1) mutant has irregularly shaped leaves and reduced growth. In the absence of pathogens, leaves of rug1 plants have spontaneous lesions reminiscent of those seen in lesion-mimic mutants; rug1 plants also express cytological ...
Víctor Quesada +5 more
doaj +1 more source
Selection of suitable endogenous reference genes for qPCR in kidney and hypothalamus of rats under testosterone influence. [PDF]
PLoS ONE, 2017 Real-time quantitative PCR (qPCR) is the most reliable and accurate technique for analyses of gene expression. Endogenous reference genes are being used to normalize qPCR data even though their expression may vary under different conditions and in ...
Khadijeh Gholami +4 more
doaj +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Schematic outlining the impact of NSAID ingestion on resistance exercise training‐induced changes in muscle morphology, function and gene networks relative to placebo ingestion in trained males. Abstract Non‐steroidal anti‐inflammatory drugs (NSAIDs) are widely overused in sports.
Joanne E. Mallinson +6 more
wiley +1 more source
Genomics, 1993 Acute intermittent porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis, results from the half-normal activity of the heme biosynthetic enzyme hydroxymethylbilane synthase (HMB-synthase). Heterozygous individuals are prone to life-threatening acute neurologic attacks, which are precipitated by certain drugs and other metabolic ...
H W, Yoo +3 more
openaire +2 more sources
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Payman Sadeghi +5 more
wiley +1 more source
Brain Pathology, Volume 36, Issue 3, May 2026.14‐3‐3 protein homeostasis is disrupted in Lewy body pathology, showing a diminution of six isotypes and overexpression of stratifin. The latter was associated with stratifin colocalization with tau pathology and reactive astrocytes. Platelets, as a peripheral biomarker source, mirrored inversely cortical 14‐3‐3 gene expression patterns in dementia ...
Laura Marsal‐García +13 more
wiley +1 more source