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Dissertations / Theses on the topic 'CLN6'

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Published: 14 March 2023

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1

Martin, Yella. "Investigation of the Batten Disease protein CLN6." Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1444803/.

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The neuronal ceroid lipofuscinoses (NCLs, Batten Disease) are a group of lysosomal storage disorders caused by mutations in known and unknown proteins with different cellular locations. Mutations in the CLN6 gene cause a type of variant late infantile NCL (vLINCL). The CLN6 protein is located in the ER and how mutations in CLN6 cause accumulation of storage material in the lysosome is unclear. The aims of this thesis were to establish the tools and techniques necessary to analyse the CLN6 protein and to utilise these to investigate its subcellular location, to identify proteins that interact w

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2

Mohd, Ismail Izmira Farhana. "Identification of a novel mutation in the CLN6 gene (CLN6) in South Hampshire sheep affected with Neuronal Ceroid Lipofuscinosis." Thesis, The University of Sydney, 2014. http://hdl.handle.net/2123/14579.

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Neuronal ceroid lipofuscinoses (NCL/Batten disease) are a group of fatal inherited neurodegenerative diseases that occur in many species including humans, sheep, dogs and cattle. Typical NCL symptoms include progressive loss of vision, regression of mental and motor development, epileptic seizures and premature death. Currently there is no effective treatment or cure for NCL, with the underlying disease mechanisms still poorly understood. Advances in molecular genetics in recent years have allowed the characterisation of hundreds of causative mutations and polymorphisms in at least 17 disease-

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3

Cramer, Thomas [Verfasser]. "Generierung monoklonaler Antikörper gegen das Protein CLN6 / Thomas Cramer." Halle, 2017. http://d-nb.info/118038783X/34.

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4

Alves, Mariana Isabel Quaresma da Rocha. "Ceroido-Lipofuscinose Neuronal. Estudos de localização celular da proteína CLN6." Master's thesis, Faculdade de Medicina da Universidade do Porto, 2007. http://hdl.handle.net/10216/22151.

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5

Alves, Mariana Isabel Quaresma da Rocha. "Ceroido-Lipofuscinose Neuronal. Estudos de localização celular da proteína CLN6." Dissertação, Faculdade de Medicina da Universidade do Porto, 2007. http://hdl.handle.net/10216/22151.

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6

Dahlmann, Cordula [Verfasser]. "Retinaler Phänotyp dreier Mausmodelle für die neuronale Ceroidlipofuszinose : (CLN1-knockout Mausmodell, CLN3Δex7/8-knock-in Mausmodell und CLN6-knockout Mausmodell) / Cordula Dahlmann". Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2013. http://d-nb.info/1031097074/34.

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7

Lauronen, Leena. "Neuromagnetic studies on somatosensory functions in CLN3, CLN5 and CLN8 forms of neuronal ceroid lipofuscinoses." Helsinki : University of Helsinki, 2001. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/lauronenle/.

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8

Trusso, Maria Allegra. "THE GENETICS OF BIPOLAR DISORDER AND THE ROLE OF HETEROZYGOSITY FOR NEURONAL CEROID LIPOFUSCINOSIS." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1214195.

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Introduction. Bipolar Disorder (BD) is an heritable chronic mental disorder causing psychosocial impairment, affecting patients with depressive/manic episodes. The familial transmission of BD does not follow any of the simple Mendelian patterns of inheritance, demonstrating the involvement of multiple susceptibility genes. Materials and Method. Whole Exome Sequencing (WES) was performed in eight subjects of a large family counting twelve BD affected people. We selected variants in common between the affected subjects, once including and once excluding a “borderline” subject with mode

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9

Krzoska, Marta [Verfasser], and Thomas [Akademischer Betreuer] Braulke. "Untersuchungen zur Interaktion des krankheitsrelevanten CLN6-Proteins mit der Inositollipidphosphatase TPIP / Marta Krzoska. Betreuer: Thomas Braulke." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2011. http://d-nb.info/1020384301/34.

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10

Bessa, Carlos Jorge Pereira. "Molecular pathophysiology underlyng neuronal ceroid lipofuscinoses: CLN2 and CLN5." Doctoral thesis, Instituto de Ciências Biomédicas Abel Salazar, 2009. http://hdl.handle.net/10216/24457.

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11

Bessa, Carlos Jorge Pereira. "Molecular pathophysiology underlyng neuronal ceroid lipofuscinoses: CLN2 and CLN5." Tese, Instituto de Ciências Biomédicas Abel Salazar, 2009. http://hdl.handle.net/10216/24457.

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12

De, Silva Weerakonda Arachchige Bhagya Nilukshi. "A study of neuronal ceroid lipofuscinosis proteins CLN5 and CLN8." Thesis, Kansas State University, 2015. http://hdl.handle.net/2097/35749.

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Master of Science<br>Biochemistry and Molecular Biophysics Interdepartmental Program<br>Stella Yu-Chien Lee<br>Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative lysosomal storage disorders which is the most frequent group of inherited neurodegenerative disorders that affect children leading to severe pathological conditions such as progressive loss of motor neuron functions, loss of vision, mental retardation, epilepsy, ataxia and atrophy in cerebral, cerebella cortex and retina and eventually premature death. Among the many genes that cause NCL, mutations in CLN5 lea

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13

Thelen, Melanie [Verfasser], and Thomas [Akademischer Betreuer] Braulke. "Expression und Proteinwechselwirkungen von murinem Cln6 und seine Rolle in der Pathogenese der Neuronalen Ceroid Lipofuszinose / Melanie Thelen. Betreuer: Thomas Braulke." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2015. http://d-nb.info/1069376795/34.

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14

Larkin, Heidi. "Rôle de Calnuc dans le triage endosomial des récepteurs lysosomiaux et implication potentielle dans les maladies du lysosome." Thèse, Université de Sherbrooke, 2016. http://hdl.handle.net/11143/8204.

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Résumé : Calnuc est une protéine ubiquitaire qui lie le calcium et qui est présente au réseau trans-golgien (TGN) ainsi qu'aux endosomes. Notre groupe a précédemment mis en évidence le rôle de Calnuc dans le transport de Low density lipoprotein receptor-related protein 9 (LRP9), un récepteur aux lipoprotéines de faible densité qui cycle entre le TGN et les endosomes. Les récepteurs lysosomiaux au mannose-6-phosphate (MPR) et Sortiline sont bien caractérisés et empruntent également cette voie. À l'image de LRP9, nous avons montré que Calnuc prévient leur dégradation aux lysosomes en participant

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15

Heine, Claudia. "Untersuchung zur Pathogenese der neuronalen Ceroid-Lipofuszinosen am Menschen und an den Tiermodellen Ovis aries (LINNEAUS 1758) und Mus musculus (LINNEAUS 1758) CLN6 und Cathepsin-D-Defizienz /." [S.l.] : [s.n.], 2003. http://deposit.ddb.de/cgi-bin/dokserv?idn=967749301.

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16

Isosomppi, Juha. "Molecular and cell biology of infantile (CLN1) and varaint late infantile (CLN5) neuronal ceroid lipofuscinoses." Helsinki : University of Helsinki, 2003. http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/isosomppi/.

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17

Sharifi, Azita. "Biologie moléculaire et cellulaire de trois protéines menmbranaires du lysosome impliquées dans les maladies neurologiques : La sialine, CLN3 et CLN7." Paris 11, 2010. http://www.theses.fr/2010PA11T033.

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18

O'Hare, Megan Beatrice. "Examining CLN7 function in Drosophila." Thesis, King's College London (University of London), 2016. https://kclpure.kcl.ac.uk/portal/en/theses/examining-cln7-function-in-drosophila(8281ab94-be3e-43f9-ab7b-4d0474f1de5d).html.

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My thesis aims to establish the normal functional role of the transmembrane protein CLN7; mutations in Cln7 cause a debilitating neurodegenerative disorder in infants known as Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL). NCL are a collection of early-onset inherited neurodegenerative disorders characterised by abnormal accumulations of autofluorescent storage material within lysosomal organelles. Mutations in thirteen genes have so far been identified in patients across all forms of NCL and disease models established, however no model has been generated for late infantile CLN7 diseas

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19

Brooks, Helen Rachel Elisabeth. "Modelling late infantile CLN2 disease." Thesis, King's College London (University of London), 2015. http://kclpure.kcl.ac.uk/portal/en/theses/modelling-late-infantile-cln2-disease(f776762d-3d0c-4713-80ae-0eaa56addb5b).html.

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The neuronal ceroid lipofuscinoses (NCLs/Batten disease) are a group of fatal autosomal recessive lysosomal storage disorders (LSDs). There are no effective treatments available for any form of NCL. This thesis focuses on modelling late infantile CLN2 disease (LINCL), which is caused by mutations in the CLN2 gene, resulting in deficiency of the lysosomal enzyme tripeptidyl peptidase I (TPP1). Potential treatments of this disorder are based upon delivering this missing enzyme to the brain but in order to judge the efficacy of future therapies, pre-clinical studies must be carried out in disease

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20

Lensink, Ingrid. "Characterisation of the Batten disease gene, CLN3 /." Title page, abstract and contents only, 2000. http://web4.library.adelaide.edu.au/theses/09PH/09phl573.pdf.

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Thesis (Ph.D.)-- University of Adelaide, Dept. of Cytogenetics and Molecular Genetics, 2000.<br>Copies of author's previously published articles inserted. Errata sheets pasted onto front end papers. Bibliography: leaves 156-182.

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21

Jones, Kiera Megan. "The photodissociation of ClNO : a computational approach." Thesis, University of Leeds, 2014. http://etheses.whiterose.ac.uk/7652/.

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The detailed photodissociation dynamics of ClNO on the 2 ¹ A' and 1 ³A'' states have been investigated using computational methods. Chapter 3 concerns the photodissociation of the 2 ¹A' state. New, purely ab initio potential energy surfaces are described, calculated using the MRCI method. Transition dipole moments and non-adiabatic coupling matrix elements have been calculated across the extent of the surface. To investigate the dissociation dynamics, wavepacket propagations using the MCTDH method have been performed, yielding NO product state distributions which match extremely well with expe

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22

Redaelli, F. "Caratterizzazione funzionale e ruolo di CLN8 nei processi neurodegenerativi." Doctoral thesis, Università degli Studi di Milano, 2009. http://hdl.handle.net/2434/63207.

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23

Brandenstein, Laura Isabel [Verfasser], and Stefan [Akademischer Betreuer] Hoth. "Analysen des Adaptorprotein-abhängigen Transports des lysosomalen Membranproteins CLN7 und von Mausmodellen (Mus musculus) der CLN7-Erkrankung / Laura Isabel Brandenstein ; Betreuer: Stefan Hoth." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2018. http://d-nb.info/1162621796/34.

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24

Lange, Jenny. "Neuron-glia interactions in infantile neuronal ceroid lipofuscinosis (CLN1 disease)." Thesis, King's College London (University of London), 2016. https://kclpure.kcl.ac.uk/portal/en/theses/neuronglia-interactions-in-infantile-neuronal-ceroid-lipofuscinosis-cln1-disease(ceed9c8f-f40d-4796-be7b-e799fe88b431).html.

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The neuronal ceroid lipofuscinoses (NCLs) are the most common cause of childhood dementia and are invariably fatal. Early, localised glial activation occurs in all forms of NCL and has been shown to be an accurate predictor of areas in which neuronal loss is most pronounced. Indeed, in a tissue culture model of juvenile NCL, glial cells have been shown to actively contribute to neuronal dysfunction and death. So far the role of glial cells has not been established in other forms of NCL and in order to assess glial function in infantile NCL (INCL, CLN1 disease), a series of different tissue cul

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25

Budden, Theodore. "CLN5 deficiency results in alterations in the activation of autophagy." Thesis, Kansas State University, 2014. http://hdl.handle.net/2097/20473.

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Master of Science<br>Department of Biology<br>Stella Y. Lee<br>CLN5 is one of several proteins that when mutated result in the lysosomal storage disorder (LSD) Neuronal Ceroid Lipofuscinosis (NCL). CLN5 is a soluble lysosomal protein that has no known function at this time. Previously we showed that eight asparagine residues in CLN5 are N-glycosylated, and that this modification is important for the protein’s transport and function. Now, we have identified a link between the activation of autophagy and CLN5 deficiency. The autophagy-lysosomal protein degradation system is one of the major path

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26

Nelvagal, Hemanth Ramesh. "Spinal cord pathology in CLN1 disease : a novel therapeutic target." Thesis, King's College London (University of London), 2017. https://kclpure.kcl.ac.uk/portal/en/theses/spinal-cord-pathology-in-cln1-disease(8b1dc3ed-dfd9-442d-a427-43ded0d82a6a).html.

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The neuronal ceroid lipofuscinoses (NCLs) are a group of up to 14 inherited progressive neurodegenerative lysosomal storage disorders affecting children and young adults. Together, they are the most common pediatric neurodegenerative storage disorders. Symptoms include loss of vision, epileptic seizures and the loss of cognitive and motor function. A lack of any effective therapies means that all forms are fatal. CLN1 disease or Infantile NCL is one of the most rapidly progressing forms of the disease and is caused by a deficiency of the lysosomal enzyme palmitoyl protein thioesterase – 1 (PPT

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27

GARSUAULT, SOPHIE. "Degradation et fonction de cln1 identification de sequences en cis responsables de la degradation et de la fonction de cln1, une cycline g1 de saccharomyces cerevisiae." Paris 6, 1998. http://www.theses.fr/1998PA066496.

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Ces travaux ont consiste a identifier des signaux en cis necessaires a la degradation et a la fonction de cln1, une cycline g1 de s. Cerevisiae. Les cyclines g1 sont au coeur de la regulation du cycle cellulaire eucaryote, controlant la transition entre proliferation et differenciation. Chez la levure saccharomyces cerevisiae, cln1 et cln2 s'accumulent dans la cellule en phase g1, declenchent l'engagement irreversible dans un nouveau cycle en activant la kinase cdc28, puis disparaissent brutalement en raison de leur haute instabilite. L'association a cdc28 se fait par l'intermediaire d'une reg

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28

Choi, Young-Jun 1967. "Biochemical and molecular aspects of an esterase from Lactobacillus casei CL96." Thesis, McGill University, 2001. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=36892.

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In order to establish the potential of an esterase from Lactobacillus casei for application in the dairy industry, this study was designed with the following objectives: (1) to determine the optimal cultural conditions for growth and enzyme production, (2) to construct a positive selection vector with low copy number for gene cloning, (3) to clone and sequence the gene encoding for esterase, (4) to biochemically characterize the purified recombinant esterase, and (5) to over-express an esterase of L. casei into Escherichia coli as well as into a methylotrophic yeast, Pichia pastoris using stro

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29

Moharir, Akshay. "Role of N-glycosylation in trafficking and stability of human CLN5." Thesis, Kansas State University, 2012. http://hdl.handle.net/2097/14143.

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Master of Science<br>Division of Biology<br>Stella Y Lee<br>Neuronal Ceroid Lipofuscinoses (NCLs) are a group of lysosomal storage diseases that are characterized by accumulating autofluorescent lipopigments in cells. NCLs are a form of progressive neurodegenerative diseases with symptoms ranging from blindness, loss of speech and motor activities to ataxia and seizures. Patients do not live to adulthood in most cases, making it prevalent in children. Among the many genes that cause NCL, CLN5 leads to different forms of NCL (infantile, late infantile, juvenile, and adult). CLN5 protein resides

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30

Jimenez, Rondan Felix Ruben. "The Biology of Claudin 6 (Cldn6) in the Developing Mouse Lung." BYU ScholarsArchive, 2015. https://scholarsarchive.byu.edu/etd/4414.

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The tight junctions (TJ), which are located in the apical region between epithelial and endothelial cells, regulate the paracellular diffusion of ions and small molecules and play an important role in maintaining cell polarity, cell-cell integrity, and permeability. In the lung, epithelial cells are attached by TJ structures. They provide a permeable barrier and cell communication. The loss of barrier integrity, which is maintained by the expression of claudins (Cldn), results in cellular permibilization and leads to paracellular diffusion of solutes and harmful molecules. There are 27 known C

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31

Quilis, Bayarri Inma. "Mecanismes d'especificitat funcional dels complexes CDK-Ciclines CLN." Doctoral thesis, Universitat de València, 2011. http://hdl.handle.net/10803/81537.

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La progressió del cicle cel.lular en les cèl.lules eucariotes es deu a l'activació seqüencial de diferents complexos CDK-ciclina. En Saccharomyces cerevisiae una sola CDK, Cdc28, s'associa amb nou ciclines diferents i és la ciclina la que determina la funció del complexe al llarg de cada fase del cicle cel.lular. Les ciclines Cln1 i Cln2 controlen la transició G1 / S. Aquestes ciclines havien estat considerades equivalents per la seva homologia de seqüència, regulació i funció, però una diferència funcional entre elles va ser descrita establint a Cln2 com l'efector principal dels processos mor

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32

Grand, Teddy. "Analyse fonctionnelle de mutations du gène CLN5 impliquées dans la maladie de Dent." Paris 6, 2010. http://www.theses.fr/2010PA066180.

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La maladie de Dent est une maladie rénale héréditaire liée au chromosome X. Elle apparait dès l’enfance ou à l’âge adulte et se traduit par une protéinurie de bas poids moléculaire accompagnée le plus souvent d’une hypercalciurie, d’une hyperphosphaturie et d’une néphrocalcinose. Cette atteinte du tubule contourné proximal conduit régulièrement à une insuffisance rénale terminale, elle est due à la mutation du gène CLCN5 codant le transporteur ClC-5. L’ensemble du travail a permis de classer les mutants ClC-5 en trois types. Les ClC-5 mutants de type 1 (16% des mutations) présentent une matura

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33

Carmody, Carol Ann. "CLND and in-source CID ESMS : a route to a truly quantitative HPLC detector?" Thesis, University of Southampton, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.401831.

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34

Ariunbat, Khandsuren [Verfasser]. "Untersuchungen zu molekularen Grundlagen lysosomaler Dysfunktion an Zellmodellen der neurodegenerativen CLN7-Erkankung / Khandsuren Ariunbat." Hamburg : Staats- und Universitätsbibliothek Hamburg Carl von Ossietzky, 2021. http://d-nb.info/1230988106/34.

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35

Nemer, Kathleen. "The role of punicic acid (c9t11c13-CLNA) in lipid and energy metabolism of mice." Connect to resource, 2009. http://hdl.handle.net/1811/37220.

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36

Kaleem, Abuzar [Verfasser], and Guido [Akademischer Betreuer] Hermey. "Functional characterization of Ceroid Lipofuscinosis Neuronal 3 (CLN3) interactions / Abuzar Kaleem ; Betreuer: Guido Hermey." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2020. http://d-nb.info/1216629544/34.

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37

Schultz, Mark. "Cell biological defects in juvenile neuronal ceroid lipofuscinosis." Diss., University of Iowa, 2013. https://ir.uiowa.edu/etd/6498.

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Mutations in the CLN3 gene cause Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), a form of Batten disease that is grouped within the broad class of lysosomal storage diseases. JNCL displays a primary central nervous system phenotype characterized by rapid onset blindness, wide spread brain atrophy and reversal of learned abilities with death occurring 10-20 years after symptom onset. The mechanisms underlying these phenotypes are not known. CLN3 encodes CLN3, a protein with no known molecular function. CLN3 is expressed at very low levels natively in most cells, and is highly hydrophobic. Simi

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Menoyo, Molins Alexandra. "Nutrient availability regulates cell cycle through a Pho85 CDK-dependent control of Cln3 cyclin stability." Doctoral thesis, Universitat Internacional de Catalunya, 2012. http://hdl.handle.net/10803/101414.

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Cell cycle control by trophic factors has a key role in regulation of cell proliferation in all organisms. Nutrients are one of these important factors needed by cells to reproduce, so very well regulated mechanisms must exist that connect nutrient availability to cell cycle. Hence the importance on studying how exactly nutrient-dependent signaling pathways work. Cln3, the most upstream G1 cyclin in Saccharomyces cerevisiae, is one well demonstrated common effector of multiple nutrient-dependent signaling pathways. Moreover, its role in cell cycle is crucial. So it is a good candidate to regu

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Steenhuis, Pieter [Verfasser], and Stephan [Akademischer Betreuer] Storch. "Intracellular Sorting and Biochemical Analysis of the Lysosomal Membrane Protein CLN7 / Pieter Steenhuis. Betreuer: Stephan Storch." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2015. http://d-nb.info/1069376825/34.

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Galal, Jana [Verfasser], and Stephan [Akademischer Betreuer] Storch. "Generation and analysis of a cell-based model of CLN7 disease / Jana Galal. Betreuer: Stephan Storch." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2015. http://d-nb.info/1071370111/34.

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Seifert, Anja Carolin Verfasser], and Robert [Akademischer Betreuer] [Bähring. "Funktion von Kv4.2/KChIP3-Kanalkomplexen in Gegenwart des lysosomalen Proteins CLN3 / Anja Carolin Seifert ; Betreuer: Robert Bähring." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2020. http://d-nb.info/1205491554/34.

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Oetjen, Sandra [Verfasser], and Guido [Akademischer Betreuer] Hermey. "Characterization of interactions and trafficking of the Neuronal Ceroid Lipofuscinosis protein CLN3 / Sandra Oetjen ; Betreuer: Guido Hermey." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2016. http://d-nb.info/1116604981/34.

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Seifert, Anja Carolin [Verfasser], and Robert [Akademischer Betreuer] Bähring. "Funktion von Kv4.2/KChIP3-Kanalkomplexen in Gegenwart des lysosomalen Proteins CLN3 / Anja Carolin Seifert ; Betreuer: Robert Bähring." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2020. http://d-nb.info/1205491554/34.

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44

Salinas, Silvia Adriana. "HPLC separation of amines with a zirconia-based column coupled to a gas- phase chemiluminescence nitrogen specific detector (CLND)." Texas A&M University, 2003. http://hdl.handle.net/1969.1/241.

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Gas phase chemiluminescence nitrogen specific detector (CLND)is used for the direct analysis of underivatized nitrogen-containing components such as alkylamines that can not be detected by the so called universal HPLC detector, the UV detector. However, alkali metal hydroxides can not be used as mobile phase constituents with the CLND because they form non volatile particulate combustion products that foul the detector. Therefore, trimethylsulfonium hydroxide (TMSOH) has been selected as a strong base for use with the CLND, because its combustion products, CO2, H2O and SxOy are volatile. An a

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Han, Bong Kwan. "The G1 cyclin Cln3p regulates vacuole homeostasis through phosphorylation of a scaffold protein, Bem1p, in Saccharomyces cerevisiae." Texas A&M University, 2005. http://hdl.handle.net/1969.1/4795.

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How proliferating cells maintain the copy number and overall size of their organelles is not clear. In the budding yeast Saccharomyces cerevisiae the G1 cyclins Cln1,2,3p control initiation of cell division by regulating the activity of the cyclin-dependent kinase (Cdk) Cdc28p. We show that Cln3p controls vacuolar (lysosomal) biogenesis and segregation. First, loss of Cln3p, but not Cln1p or Cln2p, resulted in vacuolar fragmentation. Although the vacuoles of cln3ÃÂ cells were fragmented, together they occupied a large space, which accounted for a significant fraction of the overall cell size

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Imler, Elliot, and Elliot Imler. "A Drosophila Model of Autosomal Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis (ANCL/CLN4) Links Toxicity to CSP Activity." Diss., The University of Arizona, 2016. http://hdl.handle.net/10150/621895.

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Autosomal dominant adult onset neuronal ceroid lipofuscinoses (ANCL/CLN4) is a rare neurodegenerative disorder caused by mutations in the human gene DNAJC5 which encodes cysteine string protein alpha (CSPα). ANCL is characterized by the appearance of aberrant lysosomal storage material in the post-mortem brains of patients, who usually die from widespread neuronal loss within 10 years from the onset of symptoms. CSPα is a neuroprotective co-chaperone specifically localized to synaptic vesicles (SVs) and is evolutionarily conserved in all animals. CSPα forms a chaperone complex with HSC70 to pr

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Shi, Heng. "Supercritical Fluid Chromatography with Chemiluminescent Nitrogen and Sulfur Detection." Diss., Virginia Tech, 1997. http://hdl.handle.net/10919/30546.

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The need for sensitive and selective detectors in supercritical fluid chromatography (SFC) is particularly evident since SFC can be used to analyze classes of compounds that are not readily amenable to either gas chromatography (GC) or liquid chromatography (LC). These compounds include species that are nonvolatile or thermally labile and , in addition, contain no chromophore that can be used for spectrophoto detection. The objective of this research is therefore to interface selective chemilumninescent detectors with SFC in the sensitive detection of nitrogen- and/or sulfur containing compo

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Palou, Marín Gloria. "El mecanisme de vigilància de la fase S estabilitza els nivells de la ciclina Clb6 en resposta a estrès genotòxic." Doctoral thesis, Universitat Autònoma de Barcelona, 2009. http://hdl.handle.net/10803/3621.

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Les cèl·lules eucariotes estan constantment exposades a dany al DNA i a estrès replicatiu (estrès genotòxic), font d'inestabilitat genòmica. L'anomenat mecanisme de vigilància (checkpoint) de la fase S detecta la presència d'estrès genotòxic i genera una resposta que inclou l'aturada preventiva de la replicació i del cicle cel·lular, per tal de donar temps a la superació del problema, i la protecció de la replicació dels cromosomes. Quan els elements centrals d'aquest mecanisme de control estan mutants, les cèl·lules esdevenen genèticament inestables i, en humans, predisposa al càncer. <br/>Ma

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Khan, Kamron N., Mohammed E. El-Asrag, Cristy A. Ku, et al. "Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy." ASSOC RESEARCH VISION OPHTHALMOLOGY INC, 2017. http://hdl.handle.net/10150/624955.

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PURPOSE. Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel CLN7/MFSD8 mutation combinations were investigated in this study. METHODS. Affected patients and their family members were recruited in ophthalmic clinics at each center where they were examined by retinal imaging and detailed electrophysiology. Whole exome or genome next generation sequencing was

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Martínez, Láinez Joan Marc. "Regulación del ciclo celular por ploidía en Saccharomyces cerevisiae." Doctoral thesis, Universitat Internacional de Catalunya, 2017. http://hdl.handle.net/10803/461358.

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Una de les característiques cel·lulars amb més impacte sobre la seva fisiologia cel·lular és la mida, regulada per multitud de factors extrínsecs i intrínsecs, i una característica de vital rellevància ja que afecta al volum de diferents orgànuls i a la seva proporció, l’arquitectura interna de la cèl·lula i té capacitat de adaptar-se al contingut de DNA. Respecte a aquest últim, i gràcies a estudis que es remunten a un segle fins l’actualitat, es postula que existeix un mecanisme pel que la cèl·lula es capaç de regular la seva mida cel·lular mitjançant la ploïdia. Això passa al llarg de tot l

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