Výsledky vyhledávání - "pathology [Spinocerebellar Ataxias]"

Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin system

Autor: Nicola Antonino Russo, Matthis Synofzik, Omar Torres-Quesada, Sonia Piccinin, Federica Moraca, Herbert Lindner, Bruno Catalanotti, Antonio Feliciello, Ulrich Stelzl, Verena Bachmann, Rossella Delle Donne, Laura Rinaldi, Corrado Garbi, Robert Nisticò, Antonella Scorziello, Lucio Annunziato, Francesco Chiuso, Eduard Stefan, Florian Enzler

Publikováno v: Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Nature Communications 10(1), 2572 (2019). doi:10.1038/s41467-019-10037-y

Activation of G-protein coupled receptors elevates cAMP levels promoting dissociation of protein kinase A (PKA) holoenzymes and release of catalytic subunits (PKAc). This results in PKAc-mediated phosphorylation of compartmentalized substrates that c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec72f16970a20ebd84c46f8fee3a1473
http://europepmc.org/articles/PMC6561907

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Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation

Autor: Ludger Schöls, Stephan Gierer, Stephan Züchner, Claudia Schulte, Matthis Synofzik, Rebecca Schüle, Dietmar Rudolf Thal

Publikováno v: International Journal of Molecular Sciences
International journal of molecular sciences 16(10), 25050-25066 (2015). doi:10.3390/ijms161025050
Volume 16
Issue 10
Pages 25050-25066
International Journal of Molecular Sciences, Vol 16, Iss 10, Pp 25050-25066 (2015)

Mutations in the SPG7 gene are the most frequent cause of autosomal recessive hereditary spastic paraplegias and spastic ataxias. Ala510Val is the most common SPG7 mutation, with a frequency of up to 1% in the general population. Here we report the c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d1c63a3dea9936bfc9d799e2512a728
https://doi.org/10.3390/ijms161025050

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Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

Autor: Horst-Werner Korf, Kay Seidel, Thomas Deller, Henry L. Paulson, Joanna C. Jen, Udo Rüb, Georg Auburger, Ludger Schöls, Pawel Kermer

Publikováno v: Progress in neurobiology 104, 38-66 (2013). doi:10.1016/j.pneurobio.2013.01.001

The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs). They belong to the group of CAG-repeat or polyglutamine diseases and s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be9370831cc08c49923c2ae95f550fd9
https://doi.org/10.1016/j.pneurobio.2013.01.001

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Boucher–Neuhäuser syndrome : cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism ; two novel cases and a review of 40 cases from the literature

Autor: Christina Gerth-Kahlert, Dominik Straumann, Matthis Synofzik, Peter Bauer, Florian Harmuth, Dagmar Timmann, Alexander A. Tarnutzer, D. I. Chang

Publikováno v: Journal of neurology 262(1), 194-202 (2014). doi:10.1007/s00415-014-7555-9

The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher-Neuhäuser syndrome (BNS), which has recently been linked to autosomal-recessive mutations in the PNPLA6 gene i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbc00c27e696e2ed69210c640d757a99
https://www.ncbi.nlm.nih.gov/pubmed/25359264

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Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion

Publikováno v: Journal of neurology, neurosurgery, and psychiatry 86(9), 986-995 (2014). doi:10.1136/jnnp-2014-309153

Objective Spinocerebellar ataxia 36 (SCA36) is an autosomal-dominant neurodegenerative disorder caused by a large (>650) hexanucleotide GGCCTG repeat expansion in the first intron of the NOP56 gene. The aim of this study is to clarify the prevalence,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::031e3a19d96e39590560881b3fcb0d60
https://pubmed.ncbi.nlm.nih.gov/25476002

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Motor Training in Degenerative Spinocerebellar Disease: Ataxia-Specific Improvements by Intensive Physiotherapy and Exergames

Autor: Synofzik, Matthis, Ilg, Winfried

Publikováno v: BioMed Research International, Vol 2014 (2014)
BioMed research international 2014, 1-11 (2014). doi:10.1155/2014/583507
BioMed Research International

The cerebellum is essentially involved in movement control and plays a critical role in motor learning. It has remained controversial whether patients with degenerative cerebellar disease benefit from high-intensity coordinative training. Moreover, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8675c70661d66a9d0ad8a2047b4a6c3e
https://doaj.org/article/e7fe460163fa42b2bfe98995c0cadcc1

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A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression

Autor: Thomas Büttner, Tim M. Strom, Thomas Wieland, Jens Plaschke, Friedmar Kreuz, Katrin Bürk, Gabriele Gillessen-Kaesbach, Ronja Hollstein, Ludger Schöls, Frank J. Kaiser, Christine Zühlke, Diana Braunholz, Stephanie Tennstedt

Publikováno v: European journal of medical genetics 57(5), 207-211 (2014). doi:10.1016/j.ejmg.2014.01.005

Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are allelic disorders of the gene CACNA1A encoding the P/Q subunit of a voltage gated calcium channel. While SCA6 is related to repeat e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c627dea8ed9da06079476bd7f7380487
https://pubmed.ncbi.nlm.nih.gov/24486772

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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Autor: Friedmar Kreuz, Johannes Schwarz, Janina Gburek-Augustat, Stefan Krüger, Jan Senderek, Martin Schöning, Julia Schicks, Karl-Titus Hoffmann, Sabine Rudnik-Schöneborn, Matthis Synofzik, Kathrin N. Karle, Patrick MacLeod, Peter Bauer, Rebecca Schüle, Saskia Biskup, Tobias B. Haack, Ludger Schöls, Benjamin Bender, Anne S. Soehn

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 8(1), 41 (2013). doi:10.1186/1750-1172-8-41
Orphanet journal of rare diseases 8, 41 (2013). doi:10.1186/1750-1172-8-41

Orphanet journal of rare diseases 8, 41 (2013). doi:10.1186/1750-1172-8-41
Published by BioMed Central, London

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91166a2e3e26225578292f228866ecc2
https://pubmed.ncbi.nlm.nih.gov/23497566

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Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6

Publikováno v: Brain 136(3), 905-917 (2013). doi:10.1093/brain/aws369
Brain, 136, Pt 3, pp. 905-17
Brain, 136, 905-17

Item does not contain fulltext Spinocerebellar ataxias are dominantly inherited disorders that are associated with progressive brain degeneration, mainly affecting the cerebellum and brainstem. As part of the multicentre European integrated project o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db1a307295059b708e09597afc8ff642
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=84874913811

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