Academic literature on the topic 'Spg15'

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Journal articles on the topic "Spg15"

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Hirst, Jennifer, Georg H. H. Borner, James Edgar, et al. "Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15." Molecular Biology of the Cell 24, no. 16 (2013): 2558–69. http://dx.doi.org/10.1091/mbc.e13-03-0170.

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The AP-5 complex is a recently identified but evolutionarily ancient member of the family of heterotetrameric adaptor proteins (AP complexes). It is associated with two proteins that are mutated in patients with hereditary spastic paraplegia, SPG11 and SPG15. Here we show that the four AP-5 subunits can be coimmunoprecipitated with SPG11 and SPG15, both from cytosol and from detergent-extracted membranes, with a stoichiometry of ∼1:1:1:1:1:1. Knockdowns of SPG11 or SPG15 phenocopy knockdowns of AP-5 subunits: all six knockdowns cause the cation-independent mannose 6-phosphate receptor to becom
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Pensato, Viviana, Barbara Castellotti, Cinzia Gellera, et al. "Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48." Brain 137, no. 7 (2014): 1907–20. http://dx.doi.org/10.1093/brain/awu121.

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Olmez, Akgun, and Haluk Topaloglu. "Hereditary spastic paraplegia:Pathogenesis and pathophysiology." NATIONAL JOURNAL OF NEUROLOGY, no. 5 (December 4, 2018): 1–13. http://dx.doi.org/10.28942/nnj.v1i5.105.

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 Hereditary spastic paraplegias constitute a larger group of disorders than expected.
 Autosomal dominant types are mainly composed of SPAST, Atlastin (SPG3A) and REEP1 Genetic testing is suggested mainly for these genes.
 The most common autosomal recessive type is SPG11, hereditary spastic paraplegia with thin corpus callosum, but SPG15 shares the same clinical features with SPG11. Genetic testing should be done for both if thin corpus callosum is present in patients.
 
 How different genes with many different biological functions, including axonal transport, mitoch
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Schule, R., N. Schlipf, M. Synofzik, et al. "Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia." Journal of Neurology, Neurosurgery & Psychiatry 80, no. 12 (2009): 1402–4. http://dx.doi.org/10.1136/jnnp.2008.167528.

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Pascual, B., S. T. de Bot, M. R. Daniels, et al. "“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia." American Journal of Neuroradiology 40, no. 1 (2019): 199–203. http://dx.doi.org/10.3174/ajnr.a5935.

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Schicks, Julia, Matthis Synofzik, Hjörvar Pétursson, et al. "Atypical juvenile parkinsonism in a consanguineous SPG15 family." Movement Disorders 26, no. 3 (2011): 565–66. http://dx.doi.org/10.1002/mds.23472.

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Vantaggiato, Chiara, Elena Panzeri, Marianna Castelli, et al. "ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis." Autophagy 15, no. 1 (2018): 34–57. http://dx.doi.org/10.1080/15548627.2018.1507438.

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Mallaret, Martial, Ouhaid Lagha-Boukbiza, Saskia Biskup, et al. "SPG15: a cause of juvenile atypical levodopa responsive parkinsonism." Journal of Neurology 261, no. 2 (2013): 435–37. http://dx.doi.org/10.1007/s00415-013-7216-4.

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Кадникова, В. А., О. П. Рыжкова, Г. Е. Руденская та А. В. Поляков. "НАСЛЕДСТВЕННЫЕ СПАСТИЧЕСКИЕ ПАРАПЛЕГИИ: МОЛЕКУЛЯРНО-ГЕНЕТИЧЕСКОЕ РАЗНООБРАЗИЕ И ДНК-ДИАГНОСТИКА, "Успехи современной биологии"". Успехи современной биологии, № 5 (2018): 462–75. http://dx.doi.org/10.7868/s0042132418050046.

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Наследственные спастические параплегии (НСП) - группа нейродегенеративных болезней с преобладающим поражением пирамидного тракта. Их ведущий или единственный симптом - нижний спастический парапарез, проявляющийся прогрессирующими трудностями ходьбы. НСП разно- образны по типам наследования и клиническим характеристикам. С развитием молекулярной генетики и особенно с появлением методов секвенирования нового поколения (NGS - next-generation sequencing, секвенирование нового поколения, массовое параллельное секвенирование, высокопроизводительное секвенирование) выявлена выраженная молекулярно-ген
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Ersen, Atilla, Pınar Gençpınar, Pınar Arıcan, et al. "Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient." Clinical Neuropharmacology 43, no. 4 (2020): 121–22. http://dx.doi.org/10.1097/wnf.0000000000000392.

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Dissertations / Theses on the topic "Spg15"

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FIGUEIRÊDO, JÚNIOR Carlos Alberto Santiago. "Análise do polimorfismo do gene que codifica a proteína salivar SP15 em três populações do Oriente Médio de Phlebotomus papatasi (Diptera: Psychodidae), vetor da Leishmania major." Universidade Federal de Pernambuco, 2010. https://repositorio.ufpe.br/handle/123456789/6797.

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Made available in DSpace on 2014-06-12T18:07:28Z (GMT). No. of bitstreams: 2 arquivo769_1.pdf: 2236218 bytes, checksum: c1045cac8144a4b1e0d6bf9c71ea3643 (MD5) license.txt: 1748 bytes, checksum: 8a4605be74aa9ea9d79846c1fba20a33 (MD5) Previous issue date: 2010<br>Conselho Nacional de Desenvolvimento Científico e Tecnológico<br>As proteínas presentes na saliva dos flebotomíneos possuem uma grande importância na proteção contra parasitas do gênero Leishmania. Uma das proteínas identificadas, denominada de SP15, demonstrou ser responsável pela proteção contra a progressão da doença e aumento d
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Boutry, Maxime. "Dysfonctions des lysosomes et neurodégénérescence : l'exemple de la paraplégie spastique de type SPG11." Thesis, Paris 6, 2017. http://www.theses.fr/2017PA066295/document.

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Les lysosomes sont importants pour la survie et la fonction des cellules du système nerveux central et en particulier des neurones. Le mécanisme de la reformation des lysosomes est crucial pour maintenir une quantité adéquate de lysosomes fonctionnels dans les cellules. La spatacsine, qui joue un rôle dans le ce mécanisme est impliquée dans la paraplégie spastique de type SPG11 ; une maladie caractérisée par des troubles moteurs et cognitifs sévères. L’utilisation de modèles cellulaires de cette pathologie permet d’étudier les mécanismes physiopathologiques à l’origine d’altérations de la refo
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Dalmolin, Keina Poliana Pivarro. "Clonagem de um alelo do gene SPT15 em Saccharomyces cerevisiae para aumento da produção de etanol." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/87/87131/tde-15092011-142026/.

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Alper e colaboradores demonstraram que a linhagem BY4741 recombinante portadora de cópias adicionais de um alelo SPT15 mutagenizado em três diferentes posições (spt15-300) utiliza mais rapidamente a glicose e aumenta a produção de etanol. Neste trabalho, foi realizada a clonagem deste alelo, aqui chamado spt15*. Inicialmente o DNA genômico da linhagem S. cerevisiae S288C foi utilizado como molde para amplificação por SOEing-PCR. O alelo spt15* foi clonado no plasmídeo pGEMT-Easy e, em seguida, introduzido no plasmídeo epissomal pMA91. Após construções moleculares, foi obtido o fragmento de DN
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Varga, Rita Eva [Verfasser], Christian [Gutachter] Hübner, Christoph [Gutachter] Biskup, and Thomas [Gutachter] Braulke. "Generation and characterization of a murine model for Hereditary Spastic Paraplegia SPG11 / Rita Eva Varga ; Gutachter: Christian Hübner, Christoph Biskup, Thomas Braulke." Jena : Friedrich-Schiller-Universität Jena, 2016. http://d-nb.info/117761331X/34.

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Sreekumar, Vrinda [Verfasser], and Bernard [Akademischer Betreuer] Moussian. "Phenotypic and molecular characterization of human SPG10 model in Drosophila melanogaster and its link to BMP signaling / Vrinda Sreekumar ; Betreuer: Bernard Moussian." Tübingen : Universitätsbibliothek Tübingen, 2015. http://d-nb.info/1198119845/34.

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Mishra, Himanshu Kumar [Verfasser], and Jürgen [Akademischer Betreuer] Winkler. "Modeling neurodevelopment and cortical dysfunction in SPG11-linked hereditary spastic paraplegia using human induced pluripotent stem cells / Himanshu Kumar Mishra. Gutachter: Jürgen Winkler." Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016. http://d-nb.info/1092193731/34.

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Mishra, Himanshu [Verfasser], and Jürgen [Akademischer Betreuer] Winkler. "Modeling neurodevelopment and cortical dysfunction in SPG11-linked hereditary spastic paraplegia using human induced pluripotent stem cells / Himanshu Kumar Mishra. Gutachter: Jürgen Winkler." Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016. http://d-nb.info/1092193731/34.

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Musacchio, Thomas Giuseppe [Verfasser], Stephan [Gutachter] Klebe, and Thomas [Gutachter] Haaf. "ALS und MMN mimics bei Patienten mit BSCL2 Mutationen - eine Erweiterung des klinischen Spektrums der hereditären Spinalparalyse SPG17 / Thomas Giuseppe Musacchio ; Gutachter: Stephan Klebe, Thomas Haaf." Würzburg : Universität Würzburg, 2017. http://d-nb.info/114351940X/34.

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Palsamy, Kanagaraj. "Souffle/Spastizin regulates secretory granule maturation by sorting lysosomal cargo from immature secretory granule during zebrafish oogenesis." Doctoral thesis, 2014. http://hdl.handle.net/11858/00-1735-0000-0022-600E-5.

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Musacchio, Thomas Giuseppe. "ALS und MMN mimics bei Patienten mit BSCL2 Mutationen - eine Erweiterung des klinischen Spektrums der hereditären Spinalparalyse SPG17." Doctoral thesis, 2017. https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-154224.

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Die hereditäre Spinalparalyse SPG17 ist eine autosomal-dominant vererbte Motoneuronerkrankung, welche durch Mutationen im BSCL2 (Seipin) Gen verursacht wird. Klassischerweise äußert sich die Krankheit durch eine spastische Paraparese der Beine und Amyotrophie der Hände (Silver-Syndrom) oder eine vorwiegend periphere (senso-)motorische Neuropathie. Für die vorliegende Arbeit wurden insgesamt sieben Patienten aus vier verschiedenen Familien, bei denen heterozygote Mutationen im BSCL2 Gen nachgewiesen werden konnten, klinisch sowie elektrophysiologisch und molekulargenetisch untersucht. Es gelang
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Books on the topic "Spg15"

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Ar Sp15 Viva Espanol: Grades 4-8. Renaissance Learning Inc, 2002.

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Perrett, Lisa. SP15 - The Little Farm Sticker Activity Tote. Peaceable Kingdom Press, 2007.

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Mochel, Fanny. Spastic Paraplegia Type 5. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0041.

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Spastic paraplegia type 5 (SPG5) is an autosomal recessive hereditary spastic paraplegia due to mutations in CYP7B1, which encodes oxysterol 7α‎-hydroxylase. Oxysterol 7α‎-hydroxylase is involved in the synthesis of bile acids from cholesterol. CYP7B1 mutations are responsible for rare forms of liver failure in infancy as well as lower motor neuron degeneration in adults with no obvious genotype-phenotype correlation. SPG5 is mostly characterized by spastic paraplegia with prominent posterior column sensory impairment that can lead to sensory ataxia and bladder dysfunction. SPG5 can easily be
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Höfer Polen SP015. Breslau / Wroclaw 1 : 16 500. Stadtplan : Mit Straßennamenverzeichnis, Stadtbeschreibung mit Bild und Text, Cityplanvergrößerung, Übersichtskarte Polen 1: 4 Mio. Zweisprachig. Höfer Verlag, 2016.

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Book chapters on the topic "Spg15"

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"Silver Syndrome (Silver spastic paraplegia, SPG17, 11q12-q14)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_15636.

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Conference papers on the topic "Spg15"

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Hernández, Ana, Marcondes Franca Junior, Ingrid Faber, Alberto Martinez, and Thiago Rezende. "SPG11 is associated with BMI changes and hypothalamic damage." In Congresso de Iniciação Científica UNICAMP. Universidade Estadual de Campinas, 2019. http://dx.doi.org/10.20396/revpibic2720192200.

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Mishina, Marina M., and Kseniya A. Vorob’eva. "Educational Environment as a Risk Factor in the Formation of Deviant Behavior of Today’s Teenagers." In Wellbeing and Security in the Face of Social Transformations. Liberal Arts University – University for Humanities, 2019. http://dx.doi.org/10.35853/lau.ws.2019.sp15.

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