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Dissertations / Theses on the topic 'Tmem30a'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Gego, Audrey. "Identification de protéines hépatocytaires impliquées dans l'infection hépatique de plasmodium par une approche d'interférence à ARN à grande échelle." Paris 6, 2009. http://www.theses.fr/2009PA066263.

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Afin de mettre en évidence des protéines de l’hôte nécessaires au développement des formes intra-hépatiques de Plasmodium chez l’Homme, nous avons utilisé comme outil l’ARN interférence, pour atténuer l’expression de 6080 gènes de l’hôte dans le modèle d’infection HepG2-A16/hCD81EGFP / P. Yoelii. Après deux étapes de sélection successives, vinqt-sept gènes ont été retenus. L’invalidation de ces gènes par ARNi induit une diminution de l’infection d’au moins 30% par rapport aux contrôles sans altérer la viabilité des cellules hôtes. Nous en avons étudié cinq d’entre eux : ALDH18A1, LIPG, TMEM30A

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2

Adomaviciene, Aiste. "TMEM16A channels : molecular physiology and pharmacological regulation." Thesis, University of Manchester, 2012. https://www.research.manchester.ac.uk/portal/en/theses/tmem16a-channels-molecular-physiology-and-pharmacological-regulation(681d1c72-3207-41f5-bd78-c6af0a6ccdf3).html.

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Calcium-activated chloride channels (CaCCs) are a class of the ligand-gated channels involved in numerous cellular functions. In vascular smooth muscle, these ion channels couple agonist-induced calcium-release from the sarcoplasmic reticulum to membrane depolarisation and vasoconstriction. For this reason, CaCCs have been suggested as a potential molecular target to treat a range of vascular disorders. These ion channels, however, have not been yet explored as a drug target because their molecular identity has been elusive and their pharmacology has been restricted to compounds with low poten

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3

Brookfield, Rebecca. "The pharmacology and cardiovascular function of TMEM16A channels." Thesis, University of Manchester, 2015. https://www.research.manchester.ac.uk/portal/en/theses/the-pharmacology-and-cardiovascular-function-of-tmem16a-channels(bdc16466-cecd-4343-9d40-b20bc647d70f).html.

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Calcium-activated chloride channels (CaCCs) are ubiquitously expressed in a plethora of cell types and, consequently, are involved in numerous cellular processes as diverse as epithelial secretion, regulation of cardiac excitability and smooth muscle contraction. Current pharmacology of CaCCs is limited to compounds with low potency and poor selectivity. The lack of knowledge surrounding the molecular identity of the CaCC has greatly hindered the development of more specific drugs and has impaired our understanding of the channel physiology and biophysics. The recent discovery that the TMEM16A

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4

Suzuki, Takayuki. "Functional Swapping between Transmembrane Proteins TMEM16A and TMEM16F." Kyoto University, 2014. http://hdl.handle.net/2433/188693.

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5

Page, Henry Askew. "An investigation into the role of TMEM16A in the coronary vasculature." Thesis, St George's, University of London, 2017. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.754073.

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Introduction: Failure of coronary blood vessels to adequately supply cardiac myocytes with oxygen underlies ischaemic heart disease and ultimately myocardial infarction. Therefore, it is important to determine the factors that regulate coronary blood flow. Activation of Ca2+-activated chloride channels depolarises vascular smooth muscle cells sufficiently to cause Ca2+ influx through voltage-dependent channels and contraction of the cell. TMEM16A is the main molecular candidate for these channels. Hypothesis: TMEM16A is expressed in rat coronary arteries where it regulates vascular smooth musc

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6

Ayoub, Christine. "Analyse de TMEM16A, un gène surexprimé dans les cancers des voies-aéro-digestives supérieures." Strasbourg, 2009. http://www.theses.fr/2009STRA6279.

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Le gène TMEM16A a été isolé à l’issu d’un crible à l’aide de « Differential Display » et « microarrays » visant à identifier des gènes dont l’expression est altérée dans des cellules cancéreuses des VADS. TMEM16A est fortement exprimé dans les cancers des VADS et dans plusieurs autres types de cancers. De plus, la protéine est localisée préférentiellement à la surface des cellules situées au niveau des fronts d’invasion. TMEM16A se situe dans le locus CCND1-EMS1 de la région génomique 11q13 souvent amplifiée dans les cancers humains. L’analyse bioinformatique montre que TMEM16A possède plusieu

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7

Jin, Xin. "Regulation of Ca2+ activated Cl- channel ANO1 (TMEM16A) by different Ca2+ sources in sensory neurons." Thesis, University of Leeds, 2015. http://etheses.whiterose.ac.uk/9246/.

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Proteins of anoctamin (TMEM16) family are the candidate subunits for Ca2+- activated Cl- channels (CaCC). In recent years, studies have shown that anoctamin-1 (TMEM16A or ANO1) plays important physiological roles in processes including epithelial fluid secretion, muscle contraction and olfactory transduction. How the Ca2+ regulates the activity of ANO1 in different tissue is still not clear. In this study, I showed that the excitatory CaCC in nociceptors (small-diameter sensory neurons that are responsible for transmission of painful stimuli) was activated by the release of Ca2+ from the 1, 4,

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8

Forst, Maik der [Verfasser], and Heimo [Akademischer Betreuer] Ehmke. "Die Relevanz des vaskulären TMEM16A für die Blutdruckregulation bei kreislaufwirksamen Bedingungen / Maik der Forst ; Betreuer: Heimo Ehmke." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2017. http://d-nb.info/1137624949/34.

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9

Brochier, Camille. "Analyse des transcriptomes du cerveau de souris : mise en évidence de patrons régionaux d'expression conservés chez l'homme et altérés dans des modèles de maladies neurodégénératives." Phd thesis, Université Paris Sud - Paris XI, 2007. http://tel.archives-ouvertes.fr/tel-00361207.

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L'analyse à grande échelle de l'expression des gènes dans le cerveau est une approche puissante et relativement nouvelle, susceptible d'identifier des gènes candidats pour l'analyse des fonctions cérébrales. Nous avons utilisé la méthode Serial Analysis of Gene Expression pour établir un profil d'expression quantitatif de 11 régions du cerveau de souris, dont plusieurs régions corticales, le noyau accumbens, le striatum, le thalamus, la substance noire et l'aire tegmentale ventrale. Plus d'un million d'étiquettes SAGE ont été générées, permettant la détection de transcrits peu abondants. La co

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10

Heinze, Christoph [Verfasser], Christian A. [Akademischer Betreuer] Hübner, Aria [Akademischer Betreuer] Baniahmad, and Heimo [Akademischer Betreuer] Ehmke. "Die Bedeutung des calciumaktivierten Chloridkanals TMEM16A in vaskulären glatten Muskelzellen / Christoph Heinze. Gutachter: Christian A. Hübner ; Aria Baniahmad ; Heimo Ehmke." Jena : Thüringer Universitäts- und Landesbibliothek Jena, 2015. http://d-nb.info/1076038409/34.

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11

Sonneville, Florence. "Régulation du canal chlorure ANO1 par les miARN et stratégie thérapeutique dans la mucoviscidose." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066470/document.

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La mucoviscidose (CF pour Cystic Fibrosis) est la conséquence de la mutation du gène codant pour le canal chlorure CFTR. Une des stratégies thérapeutiques proposées pour compenser la déficience de CFTR serait de stimuler une voie alternative à CFTR de sécrétion d'ions chlorures. En 2008, le canal ANO1 a été identifié comme CaCC (canal chlorure activé par le calcium) et alors proposé comme cible thérapeutique dans le contexte de la mucoviscidose. Des travaux précédents de notre laboratoire ont montré que l'activité et l'expression d'ANO1 étaient diminuées en contexte CF par rapport au contexte

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12

Crutzen, Raphaël. "Caractérisation et régulation du transport transmembranaire des ions Cl- dans les cellules β pancréatiques". Doctoral thesis, Universite Libre de Bruxelles, 2016. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/235774.

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La cellule ß pancréatique sécrète l’insuline, la seule hormone capable de diminuer la concentration en glucose plasmatique. L'insuline est sécrétée de manière régulée sous l’influence de divers stimuli dont avant tout l’élévation de la glycémie, celle-ci augmentant lors de chaque repas. Elle est donc essentielle à la préservation de l'homéostasie du glucose. Son importance est attestée par le développement du diabète sucré et de ses complications sévères et parfois mortelles lorsque sa sécrétion est supprimée ou insuffisante et/ou lorsqu'il existe un défaut de son action.La cellule ß est une c

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13

Chea, Evelyn. "Regulation of Planar Cell Polarity and Vangl2 Trafficking by Tmem14a." Thesis, 2012. http://hdl.handle.net/1807/33371.

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Planar cell polarity (PCP) refers to the coordinated orientation, movement, or structure of cells within the plane of a tissue. Zebrafish PCP mutants such as the vangl2 mutant exhibit defects in convergent extension, neural tube morphogenesis, and ciliary positioning. Tmem14a is a putative tetraspanin protein that was identified as an potential interactor of Vangl2 in a membrane yeast-two hybrid screen. GFP-tagged versions of Tmem14a are localized to the trans-Golgi network in zebrafish neuroepithelial cells. Knockdown of Tmem14a activity results in convergent extension defects, an ectopic acc

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14

Karbanová, Vendula. "Mitochondriání poruchy ATP syntázy jaderného původu." Doctoral thesis, 2013. http://www.nusl.cz/ntk/nusl-328593.

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ATP synthase represents the key enzyme of cellular energy provision and ATP synthase disorders belong to the most deleterious mitochondrial diseases affecting pediatric population. The aim of this thesis was to identify nuclear genetic defects and describe the pathogenic mechanism of altered biosynthesis of ATP synthase that leads to isolated deficiency of this enzyme manifesting as an early onset mitochondrial encephalo-cardiomyopathy. Studies in the group of 25 patients enabled identification of two new disease-causing nuclear genes responsible for ATP synthase deficiency. The first affected

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15

Kedrová, Kateřina. "Dopad izolovaného deficitu F1FO-ATP syntázy na ostatní komplexy oxidační fosforylace v kožních fibroblastech v závislosti na podmínkách kultivace." Master's thesis, 2014. http://www.nusl.cz/ntk/nusl-332137.

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Isolated deficiency of F1FO-ATPsynthase is a soubgroup of mitochondrial diseases caused by mutations in nuclear and mitochondrial-encoded structural subunits, or nuclear-encoded assembly factors of F1FO-ATPsynthase. The most often mutations are found in a MTATP6 gene localized in the mitochondrial DNA and a TMEM70 gene, localized in the nuclear DNA. A MTATP6 gene encodes subunit a of F1FO-ATPsynthase and its mutation usually leads to reduced phosphorylation activity of F1FO-ATPsynthase. A TMEM70 gene encodes a 21 kDa mitochondrial protein of the inner mitochondrial membrane of not completely e

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16

Saúde, Filipe Carapinha Caldeira Batista. "Role of PKD1 and PKD2 on ion currents in renal epithelial cells." Master's thesis, 2018. http://hdl.handle.net/10451/36504.

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Tese de mestrado em Bioquímica, apresentada à Universidade de Lisboa, através da Faculdade de Ciências, em 2018<br>A doença renal policística autossómica dominante (ADPKD) é caracterizada pelo desenvolvimento de cistos renais bilaterais que se expandem continuamente e levam a um comprometimento da função renal, sendo responsável por 10% dos casos que requerem transplante renal. A ADPKD é originada por mutações nos genes PKD1 ou PKD2, cujos produtos proteicos são coletivamente denominados policistinas. É a doença monogénica mais comum a nível mundial (incidência de 1:400-1:1000 indivíduos). A P

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17

Mazurová, Stella. "Studium klinických projevů vybraných vzácných onemocnění v dětském věku." Doctoral thesis, 2021. http://www.nusl.cz/ntk/nusl-438357.

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Introduction: Diagnosing inborn metabolic diseases, as a large subgroup of rare diseases, due to their rarity and wide variety of clinical manifestations, can be demanding and often prolonged. Objective: The aim of this work is, with the regard to clinical, biochemical and genetical aspects of selected rare diseases, to contribute to their rapid detection, widen the features of the natural course of the disease and contribute to their preventability. Material: This work includes cohort studies of patiens with cardiac manifestations in mitochondrial diseases, namely a group of 48 patients with

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18

Kovalčíková, Jana. "Funkční charakterizace nových komponent savčího mitochondriálního proteomu." Doctoral thesis, 2018. http://www.nusl.cz/ntk/nusl-384528.

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1 Abstract It has been estimated that the mammalian mitochondrial proteome consists of ~1500 distinct proteins and approximately one quarter of them is still not fully characterized. One of these proteins is TMEM70, protein involved in the biogenesis of the eukaryotic F1Fo-ATP synthase. TMEM70 mutations cause isolated deficiency of ATP synthase often resulting in a fatal neonatal mitochondrial encephalocardiomyopathies in patients. To understand the molecular mechanism of TMEM70 action, we generated constitutive Tmem70 knockout mice, which led to embryonic lethal phenotype with disturbed ATP s

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19

Mikulová, Tereza. "Zastoupení komponent ATP synthasomu v různých tkáních potkana a u pacientů s defektem ATP synthasy." Master's thesis, 2012. http://www.nusl.cz/ntk/nusl-306645.

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The complexes of oxidative phosphorylation (OXPHOS) are situated in the inner mitochondrial membrane in higher structural and functional complexes, so-called supercomplexes, which facilitates substrate channeling. ATP synthase is also able to organize in higher structures. In mammalian mitochondria, ATP synthase is usually present in a dimeric form. There is evidence of its trimerization and even tetramerization. Furthermore, it seems that ATP synthase catalyzing the phosphorylation of ADP to ATP, adenine nucleotide translocator (ANT) ensuring the exchange of ADP for newly synthesized ATP acro

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20

Prokopová, Zuzana. "Využití canisterapie ke stimulaci osob se vzácným onemocněním." Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-356155.

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The aim of this thesis was to assess the influence of canistherapeutic intervention on the level of fine motor skills in patients with rare diseases, namely mitochondrial encephalocardiomyopathy caused by TMEM70 gene mutation and Leigh syndrome. Canistherapeutic intervention in these patients is based on activation of motoric functions during programme reasonably designed according to the needs of specific patients. The assistance of the dog is used to achieve this activation. The dog acts as an important motivational factor and the direct contact with it contributes to development of sensomot

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21

Tauchmannová, Kateřina. "Genetické a funkční příčiny mitochondriálních chorob vyvolaných defekty ATP syntázy." Doctoral thesis, 2015. http://www.nusl.cz/ntk/nusl-350982.

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Disorders of ATP synthase, the key enzyme of mitochondrial energy provision belong to the most severe metabolic diseases presenting mostly as early-onset mitochondrial encephalo-cardio-myopathies. Mutations in four nuclear genes can result in isolated deficiency of ATP synthase, all sharing a similar biochemical phenotype - pronounced decrease in the content of fully assembled and functional ATP synthase complex. The thesis summarises studies on two distinct causes of ATP synthase deficiency. First is TMEM70 protein, a novel ancillary factor of ATP synthase, which represents most frequent dete

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