[HTML][HTML] 5-aminolevulinate and CHIL3/CHI3L1 treatment amid ischemia aids liver metabolism and reduces ischemia-reperfusion injury
G Jin, N Guo, Y Liu, L Zhang, L Chen, T Dong, W Liu… - Theranostics, 2023 - ncbi.nlm.nih.gov
Rationale: Liver resection and transplantation surgeries are accompanied by hepatic
ischemia-reperfusion (HIR) injury that hampers the subsequent liver recovery. Given that the …
ischemia-reperfusion (HIR) injury that hampers the subsequent liver recovery. Given that the …
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
W van Loggerenberg, S Sowlati-Hashjin, J Weile… - The American Journal of …, 2023 - cell.com
Defects in hydroxymethylbilane synthase (HMBS) can cause acute intermittent porphyria
(AIP), an acute neurological disease. Although sequencing-based diagnosis can be …
(AIP), an acute neurological disease. Although sequencing-based diagnosis can be …
Exploring current and emerging therapies for porphyrias
D Jericó, KM Córdoba, F Urigo… - Liver …, 2024 - Wiley Online Library
Porphyrias are rare, mostly inherited disorders resulting from altered activity of specific
enzymes in the haem synthesis pathway that lead to accumulation of pathway intermediates …
enzymes in the haem synthesis pathway that lead to accumulation of pathway intermediates …
Case‐based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management
M Balwani, S Keel, P Meissner, M Sonderup… - Liver …, 2024 - Wiley Online Library
The acute hepatic porphyrias (AHPs) include three autosomal dominant disorders, acute
intermittent porphyria, variegate porphyria and hereditary coproporphyria, and the ultra‐rare …
intermittent porphyria, variegate porphyria and hereditary coproporphyria, and the ultra‐rare …
Protoporphyrin IX Binds to Iron (II)-Loaded and to Zinc-Loaded Human Frataxin
G Bernardo-Seisdedos, A Schedlbauer… - Life, 2023 - mdpi.com
(1) Background: Human frataxin is an iron binding protein that participates in the biogenesis
of iron sulfur clusters and enhances ferrochelatase activity. While frataxin association to …
of iron sulfur clusters and enhances ferrochelatase activity. While frataxin association to …
[PDF][PDF] One ring closer to a closure: the crystal structure of the ES3 hydroxymethylbilane synthase intermediate
HJ Bustad, MS Christie, M Laitaoja… - The FEBS …, 2024 - bib-pubdb1.desy.de
Hydroxymethylbilane synthase (HMBS), involved in haem biosynthesis, catalyses the head-
to-tail coupling of four porphobilinogens (PBGs) via a dipyrromethane (DPM) cofactor. DPM …
to-tail coupling of four porphobilinogens (PBGs) via a dipyrromethane (DPM) cofactor. DPM …
[PDF][PDF] Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
S Mustajoki, E Pischik, E Di Pierro, M Barbaro… - 2023 - pure.eur.nl
Defects in hydroxymethylbilane synthase (HMBS) can cause acute intermittent porphyria
(AIP), an acute neurological disease. Although sequencing-based diagnosis can be …
(AIP), an acute neurological disease. Although sequencing-based diagnosis can be …
急性肝性ポルフィリン症: 急性発作の発症機序と病態生理
安田真紀子 - 臨床神経学, 2024 - jstage.jst.go.jp
要旨 ヘムはほぼ全ての生物にとって必須の鉄含有分子であるが, ヘム過多は細胞毒性を起こす
ため, ヘムの細胞内濃度は厳密に制御されている. 急性肝性ポルフィリン症 (acute hepatic …
ため, ヘムの細胞内濃度は厳密に制御されている. 急性肝性ポルフィリン症 (acute hepatic …