Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development

Autor: Hugues Henry, Elidie Béard, Layane Hanna-El-Daher, Liliane Tenenbaum, Olivier Braissant

Publikováno v: Neurobiology of Disease, Vol 79, Iss, Pp 14-27 (2015)
Neurobiology of Disease, vol. 79, pp. 14-27

Among cerebral creatine deficiency syndromes, guanidinoacetate methyltransferase (GAMT) deficiency can present the most severe symptoms, and is characterized by neurocognitive dysfunction due to creatine deficiency and accumulation of guanidinoacetat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cf7687b863583faf1bb48442403ebc2
http://www.sciencedirect.com/science/article/pii/S0969996115001266

Increased Expression of Matrix Metalloproteinase-9 in Patients with Temporal Lobe Epilepsy

Autor: Acar G, Tanriover G, Acar F, Demir R

AIM: The molecular mechanism of epileptogenesis in temporal lobe epilepsy is still unclear. Experimental studies have suggested that matrix metalloproteinases have important roles in this process, but human studies are limited. The aim of this study

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3566::da10517af2259b801f700eef9716aa99

Deficiency in short-chain fatty acid β-oxidation affects theta oscillations during sleep

Autor: Mehdi Tafti, Fabienne de Bilbao, Elisabeth Neidhart, Paul Franken, Brice Petit, Philip A. Wood, Jozsef Z Kiss, Didier Chollet

Publikováno v: Nature Genetics, Vol. 34, No 3 (2003) pp. 320-325

In rodents, the electroencephalogram (EEG) during paradoxical sleep and exploratory behavior is characterized by theta oscillations. Here we show that a deficiency in short-chain acyl-coenzyme A dehydrogenase (encoded by Acads) in mice causes a marke

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad00cfff6836c87fe91700a5280e6b54
https://doi.org/10.1038/ng1174

Ammonia toxicity to the brain: effects on creatine metabolism and transport and protective roles of creatine

Autor: Olivier Braissant

Publikováno v: Molecular genetics and metabolism
Molecular genetics and metabolism, vol. 100 Suppl 1, pp. S53-8

Hyperammonemia can provoke irreversible damage to the developing brain, with the formation of cortical atrophy, ventricular enlargement, demyelination or gray and white matter hypodensities. Among the various pathogenic mechanisms involved, alteratio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39f23fb264a2b4bbeaf5ca83e4c67a23
https://pubmed.ncbi.nlm.nih.gov/20728386

Calmodulin is required for vasopressin-stimulated increase in cyclic AMP production in inner medullary collecting duct

Autor: Mark A. Knepper, Robert A. Fenton, Chung-Lin Chou, Jason D. Hoffert

Publikováno v: Hoffert, J D, Chou, C-L, Fenton, R A & Knepper, M A 2005, ' Calmodulin is required for vasopressin-stimulated increase in cyclic AMP production in inner medullary collecting duct ', The Journal of biological chemistry, vol. 280, no. 14, pp. 13624-30 . https://doi.org/10.1074/jbc.M500040200

Calmodulin plays a critical role in regulation of renal collecting duct water permeability by vasopressin. However, specific targets for calmodulin action have not been thoroughly addressed. In the present study, we investigated whether Ca2+/calmodul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fb979f934b73cb17f3416938d80042e
https://pure.au.dk/portal/da/publications/calmodulin-is-required-for-vasopressinstimulated-increase-in-cyclic-amp-production-in-inner-medullary-collecting-duct(5b4733a8-1bfb-4eb4-bde9-2f7e6e65b167).html