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

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 mutations in STUB1 might cause a far more multisy...

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Publicado en:Orphanet J Rare Dis
Autores principales: Hayer, Stefanie Nicole, Deconinck, Tine, Bender, Benjamin, Smets, Katrien, Züchner, Stephan, Reich, Selina, Schöls, Ludger, Schüle, Rebecca, De Jonghe, Peter, Baets, Jonathan, Synofzik, Matthis
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5307643/
https://ncbi.nlm.nih.gov/pubmed/28193273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0580-x
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