Výsledky vyhledávání - "genetics [Gonadotropin-Releasing Hormone]"

Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16

Autor: Stefanie Schuster, Yvonne Schelling, Matthis Synofzik, Philip Höflinger, Ludger Schöls, Stefan Hauser

Publikováno v: Stem cell research 29, 166-169 (2018). doi:10.1016/j.scr.2018.04.001
Stem Cell Research, Vol 29, Iss, Pp 166-169 (2018)

STUB1/CHIP is a central component of cellular protein homeostasis and interacts with key proteins involved in the pathogenesis of many neurodegenerative diseases. Here, we reprogrammed human skin fibroblasts from a 12-year-old male patient with reces

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::94292e5e8e30e82a85e382e87a2fc818
https://pubmed.ncbi.nlm.nih.gov/29679845

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STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Autor: Hayer, Stefanie Nicole, Deconinck, Tine, Bender, Benjamin, Smets, Katrien, Züchner, Stephan, Reich, Selina, Schöls, Ludger, Schüle, Rebecca, De Jonghe, Peter, Baets, Jonathan, Synofzik, Matthis

Publikováno v: Orphanet journal of rare diseases 12(1), 31 (2017). doi:10.1186/s13023-017-0580-x
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases

Background CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives rise to the hypothesis that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6122de53e71042403a44c5e59839a5a1
https://pub.dzne.de/record/139155

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PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Autor: Tobias B. Haack, Didier Hannequin, Amjad Farooq, Michael A. Gonzalez, Tim M. Strom, Adriana P. Rebelo, Alexandra Durr, Wilson Marques, Christoph Kernstock, Charles Marques Lourenço, Stephan Züchner, Ludger Schöls, Holger Prokisch, Rebecca Schüle, Giovanni Stevanin, Matthis Synofzik, Marcos M. Lima-Martínez, Marie Coutelier

Publikováno v: Brain 137(1), 69-77 (2013). doi:10.1093/brain/awt326
Brain 137, 69-77 (2014)

Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser syndrome) or brisk reflexes (Gordon Holmes syndrome). Here we uncover the genetic ba

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acc5563b1b758ece4aee6062e1bc1bbd

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