Výsledky vyhledávání - "genetics [Amino Acid Substitution]"

Proteolytic Processing of Neuregulin 1 Type III by Three Intramembrane-cleaving Proteases

Autor: Daniel Fleck, Camilla Giudici, Matthias Voss, Michael Willem, Dieter Edbauer, Elisabeth Kremmer, Moritz J. Rossner, Martina Haug-Kröper, Akio Fukumori, Christian Haass, Harald Steiner, Ben Brankatschk, Benjamin M. Schwenk, Regina Fluhrer, Heike Hampel

Publikováno v: The journal of biological chemistry 291(1), 318-333 (2015). doi:10.1074/jbc.M115.697995
J. Biol. Chem. 291, 318-333 (2016)

Numerous membrane-bound proteins undergo regulated intramembrane proteolysis. Regulated intramembrane proteolysis is initiated by shedding, and the remaining stubs are further processed by intramembrane-cleaving proteases (I-CLiPs). Neuregulin 1 type

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35971ce3c86b99465f7c5da97b1b0cb9
https://doi.org/10.1074/jbc.m115.697995

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Impairment of the Rod Outer Segment Membrane Guanylate Cyclase Dimerization in A Cone−Rod Dystrophy Results in Defective Calcium Signaling

Autor: Karl-W. Koch, Teresa Duda, Anna Jankowska, Christian Lange, Venkateswar Venkataraman, Rameshwar K. Sharma

Publikováno v: Biochemistry 39, 12522-12533 (2000). doi:10.1021/bi001514d

Rod outer segment membrane guanylate cyclase1 (ROS-GC1) is the original member of the membrane guanylate cyclase subfamily whose distinctive feature is that it transduces diverse intracellularly generated Ca(2+) signals in the sensory neurons. In the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a097ba0323471a2550609e0ae0d09be
https://doi.org/10.1021/bi001514d

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The structure of a novel glucuronoyl esterase from Myceliophthora thermophila gives new insights into its role as a potential biocatalyst

Autor: Maria Dimarogona, Evangelos Topakas, Evangelia D. Chrysina, Maria Despoina Charavgi, Paul Christakopoulos

Publikováno v: Acta crystallographica / D 69, 63 (2013). doi:10.1107/S0907444912042400

The increasing demand for the development of efficient biocatalysts is a consequence of their broad industrial applications. Typical difficulties that are encountered during their exploitation in a variety of processes are interconnected with factors

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c0e61976ef8e797f01395416f2e735
https://bib-pubdb1.desy.de/record/140773

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Effects of transcranial direct current stimulation (tDCS) on executive functions: influence of COMT Val/Met polymorphism

Autor: Bastian Zwissler, Rejko Krüger, Brigitte Maurer, Katrin Elisabeth Giel, Christian Plewnia, Isabella Längst

Publikováno v: Cortex 49(7), 1801-1807 (2013). doi:10.1016/j.cortex.2012.11.002

Introduction Transcranial direct current stimulation (tDCS) is a frequently used technique to investigate healthy and impaired neuronal functions. Its modulatory effect on executive functions is of particular interest for understanding the mechanisms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97deb435193f683916b08a1642945697
https://pubmed.ncbi.nlm.nih.gov/23237479

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Effect of hydrophobic mutations in the H2-H3 subdomain of prion protein on stability and conversion in vitro and in vivo

Autor: Roman Jerala, Lars Gaedtke, Iva Hafner-Bratkovič, Andrej Ondracka, Ina Vorberg, Peter Veranič

Publikováno v: PLoS ONE
PLoS ONE, Vol 6, Iss 9, p e24238 (2011)
PLOS ONE 6(9), e24238 (2011). doi:10.1371/journal.pone.0024238

Prion diseases are fatal neurodegenerative diseases, which can be acquired, sporadic or genetic, the latter being linked to mutations in the gene encoding prion protein. We have recently described the importance of subdomain separation in the convers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15c54b911335508e7207034c3d93bb82
https://pubmed.ncbi.nlm.nih.gov/21909425

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Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy

Publikováno v: European heart journal 32(9), 1121-1133 (2011). doi:10.1093/eurheartj/ehq507
Eur. Heart J. 32, 1121-1133 (2011)
European Heart Journal

Aims Cardiac energy requirement is met to a large extent by oxidative phosphorylation in mitochondria that are highly abundant in cardiac myocytes. Human mitochondrial thioredoxin reductase (TXNRD2) is a selenocysteine-containing enzyme essential for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c06e70ebefa0cb25b5c586ac18f2ccba
https://pub.dzne.de/record/136225

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Olfactory neuron-specific expression of A30P α-synuclein exacerbates dopamine deficiency and hyperactivity in a novel conditional model of early Parkinson's disease stages

Autor: Philipp J. Kahle, Zacharias Kohl, Stephan von Hörsten, Leanie Koch, Thirumalaisamy P. Velavan, Oscar Arias-Carrión, Jana Boy, Carsten Calaminus, Huu P. Nguyen, Markus Fendt, Jacqueline Schneider, Olaf Riess, Rolf Dermietzel, Rejko Krüger, Silke Nuber, Peter Teismann, Elisabeth Petrasch-Parwez, Anna Samarina

Publikováno v: Neurobiology of disease 44(2), 192-204 (2011). doi:10.1016/j.nbd.2011.06.017
Neurobiology of Disease, Vol 44, Iss 2, Pp 192-204 (2011)

Mutations in the N-terminus of the gene encoding α-synuclein (α-syn) are linked to autosomal dominantly inherited Parkinson's disease (PD). The vast majority of PD patients develop neuropsychiatric symptoms preceding motor impairments. During this

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The compatible-solute-binding protein OpuAC from Bacillus subtilis: ligand binding, site-directed mutagenesis, and crystallographic studies

Autor: Lutz Schmitt, Justin Lecher, Sander H. J. Smits, Erhard Bremer, Mohamed Jebbar, Marina Höing

Publikováno v: Journal of bacteriology 190, 5663-5671 (2008). doi:10.1128/JB.00346-08
Journal of Bacteriology
Journal of Bacteriology, 2008, 190 (16), pp.5663-71. ⟨10.1128/JB.00346-08⟩
Journal of Bacteriology, American Society for Microbiology, 2008, 190 (16), pp.5663-71. ⟨10.1128/JB.00346-08⟩

In the soil bacterium Bacillus subtilis , five transport systems work in concert to mediate the import of various compatible solutes that counteract the deleterious effects of increases in the osmolarity of the environment. Among these five systems,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2936521ee1169089073192c88272765f
https://pubmed.ncbi.nlm.nih.gov/18567662

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