Article
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.
Orphanet journal of rare diseases - 13 Feb 2017
Hayer Stefanie Nicole, Deconinck Tine, Bender Benjamin, Smets Katrien, Züchner Stephan, Reich Selina, Schöls Ludger, Schüle Rebecca, De Jonghe Peter, Baets Jonathan, Synofzik Matthis
Abstract excerpt
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 multisystemic neurodegenerative phenotype than the previously reported cerebellar ataxia syndrome. METHODS: Whole exome...
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