Update in global trends and aetiology of hepatocellular carcinoma

P Rawla, T Sunkara, P Muralidharan… - Contemporary Oncology …, 2018 - termedia.pl
Hepatocellular carcinoma (HCC) is the most common primary cancer of the liver responsible
for an increasing number of cancer-related deaths, especially in developing economies of …

[HTML][HTML] Risk of HCC: genetic heterogeneity and complex genetics

TA Dragani - Journal of hepatology, 2010 - Elsevier
Hepatocellular carcinoma (HCC) is a common form of cancer that arises from hepatocytes
and whose risk may be affected by several known environmental factors, including hepatitis …

[HTML][HTML] Acute intermittent porphyria: an overview of therapy developments and future perspectives focusing on stabilisation of HMBS and proteostasis regulators

HJ Bustad, JP Kallio, M Vorland, V Fiorentino… - International Journal of …, 2021 - mdpi.com
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low
clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) …

Homing endonucleases: from basics to therapeutic applications

MJ Marcaida, IG Muñoz, FJ Blanco, J Prieto… - Cellular and Molecular …, 2010 - Springer
Homing endonucleases (HE) are double-stranded DNAses that target large recognition sites
(12–40 bp). HE-encoding sequences are usually embedded in either introns or inteins. Their …

A challenging diagnosis for potential fatal diseases: recommendations for diagnosing acute porphyrias

P Ventura, MD Cappellini, G Biolcati, CC Guida… - European journal of …, 2014 - Elsevier
Acute porphyrias are a heterogeneous group of metabolic disorders resulting from a
variable catalytic defect of four enzymes out of the eight involved in the haem biosynthesis …

[HTML][HTML] HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review

S Li, JJ Lei, BX Dong, Y Ren, J Yang - Medicine, 2023 - journals.lww.com
Background: Acute intermittent porphyria (AIP) is caused by a partial deficiency of
hydroxymethylbilane synthase and affects heme biosynthesis. Mutations in the HMBS gene …

Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function

MS Christie, M Laitaoja, AK Aarsand, JP Kallio… - FEBS Open …, 2022 - Wiley Online Library
Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis,
in which it catalyses the formation of tetrapyrrole 1‐hydroxymethylbilane (HMB). In this …

Crystal structures of hydroxymethylbilane synthase complexed with a substrate analog: a single substrate-binding site for four consecutive condensation steps

H Sato, M Sugishima, M Tsukaguchi… - Biochemical …, 2021 - portlandpress.com
Hydroxymethylbilane synthase (HMBS), which is involved in the heme biosynthesis
pathway, has a dipyrromethane cofactor and combines four porphobilinogen (PBG) …

Application of a substrate cocktail approach in the assessment of cytochrome P450 induction using cultured human hepatocytes

RD Pelletier, WG Lai, YN Wong - Journal of Biomolecular …, 2013 - journals.sagepub.com
Induction of the cytochrome P450 (CYP) family of enzymes by coadministered compounds
can result in drug-drug interactions, as in the case of the coadministration of rifampicin with …

Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations

I Paradisi, S Arias - … Metabolic Disease: Official Journal of the …, 2010 - Wiley Online Library
Acute intermittent porphyria (AIP) caused by mutations in the hydroxymethylbilane synthase
gene (HMBS), has been reported in almost all human populations, with varying frequencies …