Results 61 to 70 of about 1,764 (178)

Structural studies of substrate and product complexes of 5-aminolaevulinic acid dehydratase from humans, Escherichia coli and the hyperthermophile Pyrobaculum calidifontis [PDF]

, 2017
A number of X-ray analyses of an enzyme involved in a key early stage of tetrapyrrole biosynthesis are reported. Two structures of human 5-aminolaevulinate dehydratase (ALAD), native and recombinant, have been determined at 2.8 Å resolution, showing that
Ajioka, Amo, Baker, Bardag-Gorce, Bevan, Boese, Breinig, Brünger, Chen, Coates, Cowtan, Doss, Emsley, Erdtman, Erskine, Erskine, Erskine, Erskine, Erskine, Erskine, Evans, Frankenberg, Gibbs, Gibbs, Gross, Guo, Haneef, Heinemann, Holton, Jaffe, Jaffe, Jaffe, Jaffe, Jaffe, Jaffe, Jaffe, Jaffe, Jaffe, Jaffe, Jaffe, Jaffe, Jaffe, Jordan, Jordan, Jordan, Jordan, Kaya, Kokona, Krissinel, Laskowski, Layer, Lentz, Lentz, Leslie, Lindblad, Lovell, Mauzerall, McCoy, Murshudov, Murshudov, Pilz, Potluri, Sanner, Sassa, Sawada, Selwood, Sheldrick, Shemin, Simons, Spencer, Spencer, Tian, Vagin, Vaguine, Warren, Warren, Wells, Wetmur, Winn, Wu   +79 more
core   +2 more sources

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

Newborn screening for Tyrosinemia type 1 using succinylacetone – a systematic review of test accuracy [PDF]

Orphanet Journal of Rare Diseases, 2017
Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved outcomes; some studies suggest better outcomes when treatment begins at an asymptomatic stage.
Stinton, Chris, Geppert, Julia, Freeman, Karoline, Clarke, Aileen, Johnson, Samantha, Fraser, Hannah, Sutcliffe, Paul, Taylor-Phillips, Sian   +7 more
openaire   +3 more sources

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J. Castelbón, Javier Tomás Solera, Antoni Riera‐Mestre, María Barreda‐Sánchez, Carlo Poci, Annamaria Nicolli, Francesco Urigo, Ana Sampedro, Rafael Enríquez de Salamanca, Matteo Marcacci, Matías A. Ávila, Pauline Harper, Marta G. Fanlo‐Maresma, Encarna Guillén‐Navarro, Giovanna Graziadei, Andrea Wenzel, Bodo B. Beck, Paolo Ventura, Montserrat Morales‐Conejo, Antonio Fontanellas   +22 more
wiley   +1 more source

Pathophysiology of the Belgrade rat [PDF]

, 2014
The Belgrade rat is an animal model of divalent metal transporter 1 (DMT1) deficiency. This strain originates from an X-irradiation experiment first reported in 1966.
Abboud, Al-Awqati, Andrews, Arredondo, Bartnikas, Beaumont, Biljanovic-Paunovic, Bowen, Brain, Brenner, Burdo, Canonne-Hergaux, Canonne-Hergaux, Casanova-Esteban, Chu, Chua, Chua, Collins, Conrad, Cooksey, Crossgrove, Cutler, Dautry-Varsat, Donovan, Drake, Ece, Eddy, Edwards, Espinoza, Farcich, Farcich, Ferguson, Ferguson, Fleming, Fleming, Galy, Garrick, Garrick, Garrick, Garrick, Garrick, Garrick, Garrick, Ghio, Ghio, Gruenheid, Gunshin, Gunshin, Gunshin, Hansen, Harrison, Hentze, Hubert, Illing, Inoue, Ivanovic, Jerums, Jia, Jiang, Jiang, Kim, Kim, Kim, Knopfel, Knopfel, Kozyraki, Lam-Yuk-Tseung, Lam-Yuk-Tseung, Lee, Lisle, Liuzzi, Mackenzie, Mackenzie, Mastrogiannaki, McKie, McKie, Mims, Moos, Morgan, Morgan, Moulouel, Nam, Nguyen, Oates, Oates, Ohgami, Pantopoulos, Papavasiliou, Pavlovic-Kentera, Rolovic, Rossander-Hulten, Roth, Ruvin Kumara, Satchell, Shah, Shawki, Shindo, Sladic-Simic, Sladic-Simic, Smith, Stojanovic, Su, Thompson, Thompson, Thompson, Thomson, Touret, Tran, Veuthey, Veuthey, Vokurka, Wang, Wang, Wang, Wang, Wareing, Wessling-Resnick, Wessling-Resnick, Wessling-Resnick, Xu, Yamada, Yeh, Yeh, Yokoi, Zarjou   +124 more
core   +3 more sources

Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias [PDF]

, 2021
Porphyrias are a group of congenital and acquired diseases caused by an enzymatic impairment in the biosynthesis of heme. Depending on the specific enzyme involved, different types of porphyrias (i.e., chronic vs. acute, cutaneous vs.
Andrea Ricci, Elena Di Pierro, Matteo Marcacci, Paolo Ventura   +3 more
core   +1 more source

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids

Clinical and Translational Medicine, Volume 15, Issue 9, September 2025.
Urinary organic acid profiles in NICCD show enrichment in energy and amino acid pathways. The random forest model differentiates NICCD from non‐specific metabolic abnormalities, both with elevated 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid, which may cause misdiagnosis. Model explanation and web application help physicians make clinical
Peiyao Wang, Peichun Chen, Xinjie Yang, Ziyan Cen, Yu Zhang, Qimin He, Benqing Wu, Xinwen Huang   +7 more
wiley   +1 more source

Hyperprolinemia as a clue in the diagnosis of a patient with a psychiatric disorder [PDF]

, 2016
Background: Over the last few years, microdeletions of the 22q11.2 region responsible for DiGeorge syndrome, or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorders.
Antunes, D., Correia, Hildeberto, Duarte, M., Ferreira, Cristina, Marques, M., Moreira, A., Sequeira, S.   +6 more
core  

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source

Heme oxygenase-1 regulates matrix metalloproteinase MMP-1 secretion and chondrocyte cell death via Nox4 NADPH oxidase activity in chondrocytes. [PDF]

PLoS ONE, 2013
Interleukin-1β (IL-1β) activates the production of reactive oxygen species (ROS) and secretion of MMPs as well as chondrocyte apoptosis. Those events lead to matrix breakdown and are key features of osteoarthritis (OA). We confirmed that in human C-20/A4
Francis Rousset, Minh Vu Chuong Nguyen, Laurent Grange, Françoise Morel, Bernard Lardy   +4 more
doaj   +1 more source