Výsledky vyhledávání - "metabolism [Inositol]"

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Publikováno v: European journal of human genetics
European Journal of Human Genetics
European journal of human genetics 26(11), 1623-1634 (2018). doi:10.1038/s41431-018-0206-3

We explored the clinico-genetic basis of spinocerebellar ataxia 29 (SCA29) by determining the frequency, phenotype, and functional impact of ITPR1 missense variants associated with early-onset ataxia (EOA). Three hundred thirty one patients from a Eu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::771fbcbe7bd22e9e425d974c0af8c97d
https://hdl.handle.net/10067/1547070151162165141

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Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease

Autor: Annekathrin Sturn, Carmen Noelker, René Roscher, Lixia Lu, Günter U. Höglinger, Etienne C. Hirsch, Hartmann Andreas, Franca Vulinovic, Matthias Höllerhage, Daniel Alvarez-Fischer, Wolfgang H. Oertel

Publikováno v: Journal of the Neurological Sciences
Journal of the Neurological Sciences, 2015, 356 (1-2), pp.129-136. ⟨10.1016/j.jns.2015.06.030⟩
Journal of the neurological sciences 356(1-2), 129-136 (2015). doi:10.1016/j.jns.2015.06.030
Journal of the Neurological Sciences, Elsevier, 2015, 356 (1-2), pp.129-136. ⟨10.1016/j.jns.2015.06.030⟩

International audience; Gaucher disease is an autosomal recessive disease, caused by a lack or functional deficiency of the lysosomal enzyme, glucocerebrosidase (GCase). Recently, mutations in the glucocerebrosidase gene (GBA) have been associated wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::712c8d390bfa829bb6b4f7bc0c7842c3
https://hal.sorbonne-universite.fr/hal-01166888/document

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Characterization of myo -Inositol Utilization by Corynebacterium glutamicum : the Stimulon, Identification of Transporters, and Influence on l -Lysine Formation

Autor: Volker F. Wendisch, Lothar Eggeling, Karin Krumbach, Eva Krings, Brigitte Bathe, Hermann Sahm, Ralf Kelle

Publikováno v: Journal of bacteriology 188(23), 8054-8061 (2006). doi:10.1128/JB.00935-06

Although numerous bacteria possess genes annotated iol in their genomes, there have been very few studies on the possibly associated myo -inositol metabolism and its significance for the cell. We found that Corynebacterium glutamicum utilizes myo -in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caaa1855edd3bb71f99611144a1ba41e
https://doi.org/10.1128/jb.00935-06

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FKBP12 associates tightly with the skeletal muscle type 1 ryanodine receptor, but not with other intracellular calcium release channels

Autor: Vincenzo Sorrentino, John J. Mackrill, Mark Carmody, Cora O'Neill

Publikováno v: FEBS Letters. 505:97-102

This study compared the relative levels of ryanodine receptor (RyR) isoforms, inositol 1,4,5-trisphosphate receptor (IP3R) isoforms, and calcineurin, plus their association with FKBP12 in brain, skeletal and cardiac tissue. FKBP12 demonstrated a very

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d17c00399a4e6e85befd24cc178124
https://doi.org/10.1016/s0014-5793(01)02787-9

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Calcium entry, mobilization, and extrusion in postcapillary venular endothelium exposed to bradykinin

Autor: Harris J. Granger, M. Ziche, R. K. Hester, David C. Zawieja

The effect of bradykinin (BK) on cytosolic calcium in coronary venular endothelial cells (CVEC) was studied using the intracellular calcium indicator indo 1. At normal extracellular calcium levels, CVEC responded to BK at concentrations as low as 0.1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::428910847d1e37adb9e4c94f3ab0c2c3
http://hdl.handle.net/11365/30802

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Metabotropic glutamate receptors in cultured cerebellar granule cells: developmental profile

Autor: Eleonora Aronica, P. Dell'Albani, Carla Amico, R. Balázs, F. Nicoletti, Daniele F. Condorelli

Publikováno v: Journal of neurochemistry, 60(2), 559-565. Wiley-Blackwell
Scopus-Elsevier

Excitatory amino acid (EAA)-induced polyphosphoinositide (PPI) hydrolysis was studied during the development in culture of cerebellar granule cells. The developmental pattern was similar using metabotropic glutamate (Glu) receptor (mGluR) agonists, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e300b07fa18ff233e3cc5a11755aad5a
https://pure.amc.nl/en/publications/metabotropic-glutamate-receptors-in-cultured-cerebellar-granule-cells-developmental-profile(cd5e91e1-9b5f-4d9a-b418-4e790481efc8).html

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Beta-N-methylamino-L-alanine (L-BMAA) is a potent agonist of 'metabolotropic' glutamate receptors

Autor: Agata Copani, Ferdinando Nicoletti, Pier Luigi Canonico

We now report that the action of β-N-Methylamino-L-alanine (L-BMAA) is not restricted to N-methyl-D-apartate (NMDA) receptors but involves «metabolotropic» glutamate (GLU) receptors coupled to inositol phospholipid (PPI) hydrolysis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c93a2e8992ed23f613385b82e52d9a4
http://hdl.handle.net/11573/465840

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