Results 51 to 60 of about 5,767 (207)

Mechanistic effects of amino acids and glucose in a novel glutaric aciduria type 1 cell model. [PDF]

PLoS ONE, 2014
Acute neurological crises involving striatal degeneration induced by a deficiency of glutaryl-CoA dehydrogenase (GCDH) and the accumulation of glutaric (GA) and 3-hydroxyglutaric acid (3-OHGA) are considered to be the most striking features of glutaric ...
Xi Fu, Hongjie Gao, Fengyan Tian, Jinzhi Gao, Liping Lou, Yan Liang, Qin Ning, Xiaoping Luo   +7 more
doaj   +1 more source

Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH

Fundamental Research, 2022
Glutaric aciduria type I (GA-I) is an autosomal recessive genetic disorder caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Patients who do not receive proper treatment may die from acute encephalopathic crisis.
Lu Guo, Zhikun Li, Yuhuan Li, Bin Qu, Guanyi Jiao, Chen Liang, Zongbao Lu, Xin-Ge Wang, Cheng Huang, Hongwei Du, Jianmin Liang, Qi Zhou, Wei Li   +12 more
doaj   +1 more source

Anaerobic Microbial Degradation of Hydrocarbons: From Enzymatic Reactions to the Environment [PDF]

, 2016
Hydrocarbons are abundant in anoxic environments and pose biochemical challenges to their anaerobic degradation by microorganisms. Within the framework of the Priority Program 1319, investigations funded by the Deutsche Forschungsgemeinschaft on the ...
Boll, Matthias, Buckel, Wolfgang, Einsle, Oliver, Ermler, Ulrich, Golding, Bernard T., Gunsalus, Robert P., Heider, Johann, Kroneck, Peter M.H., Krueger, Martin, Lueders, Tillmann, Martins, Berta M., Meckenstock, Rainer U., Musat, Florin, Rabus, Ralf, Richnow, Hans H., Schink, Bernhard, Seifert, Jana, Szaleniec, Maciej, Treude, Tina, Ullmann, G. Matthias, Vogt, Carsten, von Bergen, Martin, Wilkes, Heinz   +22 more
core   +2 more sources

Hypoglycaemia related to inherited metabolic diseases in adults

Orphanet Journal of Rare Diseases, 2012
In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious.
Douillard Claire, Mention Karine, Dobbelaere Dries, Wemeau Jean-Louis, Saudubray Jean-Marie, Vantyghem Marie-Christine   +5 more
doaj   +1 more source

User-Loaded SlipChip for Equipment-Free Multiplexed Nanoliter-Scale Experiments [PDF]

, 2010
This paper describes a microfluidic approach to perform multiplexed nanoliter-scale experiments by combining a sample with multiple different reagents, each at multiple mixing ratios. This approach employs a user-loaded, equipment-free SlipChip.
Du, Wenbin, Ismagilov, Rustem, Li, Liang
core  

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity [PDF]

, 2017
Background: Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder.
Bodamer, Olaf, Boy, Nikolas, Brackmann, Renate, Harting, Inga, Heringer, Jana, Kölker, Stefan, Seitz, Angelika   +6 more
core   +1 more source

Teaching Neuro Images : Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency) [PDF]

Neurology, 2011
A 14-month-old boy presented with loss of developmental milestones and tonic spasms following a diarrheal illness. He was born to nonconsanguineous parents and had mild motor delays. Examination was remarkable for macrocephaly, axial hypotonia, and asymmetric dystonic posturing of neck, trunk, and extremities. …
Paramdeep, Singh, Jatinder Singh, Goraya, Archana, Ahluwalia, Kavita, Saggar   +3 more
openaire   +2 more sources

Dual pharmacological targeting of coactivator‐associated arginine methyltransferase 1 (CARM1) and salt inducible kinase (SIK) drives ketogenesis in both hepatocytes and mice

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Ketone bodies are liver‐derived circulating energy metabolites that positively impact most hallmarks of ageing. Ketone bodies increase during calorie restriction and fasting, two of the more widely perceived methods to increase health span.
Tábata Bergonci, Troels Kjær Rosenbæk, Samuel J. Windross, Ulrik B. Keiding, Estéfano Pinilla, Katrine P. Stuckert, Jakob Hansen, Camilla B. Nielsen, Jemila Peter Gomes, Lucy R. Davies, Johan Palmfeldt, Volker Loeschcke, Charlotte U. Andersen, Ulf Simonsen, Thomas B. Poulsen, Mogens Johannsen   +15 more
wiley   +1 more source

Mechanisms of triglyceride-lowering effect of an HMG-CoA reductase inhibitor in a hypertriglyceridemic animal model, the Zucker obese rat.

Journal of Lipid Research, 1992
Inhibitors of 3-hydroxy-3-methyl glutaryl coenzyme A (HMG-CoA) reductase have been approved for treatment of hypercholesterolemia in humans. This class of therapeutic agents, in addition to lowering plasma cholesterol, reduces plasma triglyceride levels.
SE Kasim, RC LeBoeuf, S Khilnani, L Tallapaka, D Dayananda, KL Jen   +5 more
doaj   +1 more source

Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution [PDF]

, 2018
The new technology of tandem mass spectrometry is having a significant impact on the diagnostics of inborn metabolic errors. One of the most important aspects of this new technology is the possibility of recognising a whole class of disorders within a ...
Superti-Furga, Andrea
core