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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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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: Hayer, Stefanie Nicole, Deconinck, Tine, Bender, Benjamin, Smets, Katrien, Züchner, Stephan, Reich, Selina, Schöls, Ludger, Schüle, Rebecca, De Jonghe, Peter, Baets, Jonathan, Synofzik, Matthis
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2017
Konular:
Online Erişim: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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