Physiological Characterization and Comparative Transcriptome Analysis of White and Green Leaves of Ananas comosus var. bracteatus. [PDF]
PLoS ONE, 2017 Leaf coloration is one of the most important and attractive characteristics of Ananas comosus var. bracteatus. The chimeric character is not stable during the in vitro tissue culturing.
Xia Li +7 more
doaj +1 more source
Structural evidence for the partially oxidized dipyrromethene and dipyrromethanone forms of the cofactor of porphobilinogen deaminase: structures of the Bacillus megaterium enzyme at near-atomic resolution. [PDF]
, 2014 The enzyme porphobilinogen deaminase (PBGD; hydroxymethylbilane synthase; EC 2.5.1.61) catalyses an early step of the tetrapyrrole-biosynthesis pathway in which four molecules of the monopyrrole porphobilinogen are condensed to form a linear tetrapyrrole.
Akhtar, M +8 more
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JIMD Reports, 2023 A 47‐year‐old woman with acute intermittent porphyria (AIP) has had recurring symptoms after achieving biochemical normalization of her urinary 5‐aminolevulinic acid (ALA), porphobilinogen (PBG), and total porphyrins with givosiran.
Christopher D. Ma +2 more
doaj +1 more source
Frontiers in Genetics, 2022 Background and aims: Porphyrias constitute a group of rare genetic diseases due to various, mostly autosomal dominant mutations, causing enzymatic deficiency in heme biosynthesis.
Edwige Collaud +7 more
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X-ray structure of a putative reaction intermediate of 5-aminolaevulinic acid dehydratase [PDF]
, 2003 The X-ray structure of yeast 5-aminolaevulinic acid dehydratase, in which the catalytic site of the enzyme is complexed with a putative cyclic intermediate composed of both substrate moieties, has been solved at 0.16 nm (1.6 A) resolution.
Erskine, Peter T. +8 more
core +1 more source
RNA‐Based Therapies for Inherited Metabolic Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri +5 more
wiley +1 more source
Psychiatric Disorder in Porphyria: A Case Series
Medical Journal of Dr. D.Y. Patil VidyapeethPorphyria is a group of rare genetic disorders that affect the heme production pathway due to specific enzyme abnormalities. These conditions present diverse clinical symptoms, including gastrointestinal, neurovisceral, cutaneous, neurological, and ...
Poulomi Ghosh +3 more
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Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report
Anais da Academia Brasileira de Ciências, 2013 Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen.
ANNA R.R. DOS SANTOS +4 more
doaj +1 more source
The Effects of β-Mercaptoethanol on the Specific Activity of Porphobilinogen Synthase Mutants of the Rhodobacter sphaeroides Protein [PDF]
, 2005 The enzyme porphobilinogen synthase (PBGS) catalyzes the conversion of two molecules of δ-aminolevulinic acid (ALA) into porphobilinogen (PBG) in the first common step of the tetrapyrrole biosynthesis pathway. A homology model of the R.
Archibald \u2705, Trefan
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The TRAIL-receptor-1: TRAIL-receptor-3 and -4 ratio is a predictor for TRAIL sensitivity of cancer cells [PDF]
, 2009 The tumour necrosis factor-related apoptosis-inducing ligand (TRAIL) is a potent inducer of apoptosis in many cancer cells. However, a significant proportion of tumours are TRAIL-resistant erecting a major hurdle for a successful TRAIL-based treatment ...
Zwacka,
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