Concepedia

Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48

Stefania Magri, Lorenzo Nanetti, Cinzia Gellera, Elisa Sarto, Elena Rizzo, Alessia Mongelli, Benedetta Ricci, Roberto Fancellu, Luisa Sambati, Pietro Cortelli,

Genetics in Medicine · 2021 · 73 citations · 32 references

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32

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? [In Process Citation]

Reiji Koide · Human Molecular Genetics · 1999 · 400 citations

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CHIP Suppresses Polyglutamine Aggregation and Toxicity<i>In Vitro</i>and<i>In Vivo</i>

Victor M. Miller, Rick F. Nelson, Cynthia M. Gouvion et al. · Journal of Neuroscience · 2005 · 236 citations · Full text

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CHIP Protects from the Neurotoxicity of Expanded and Wild-type Ataxin-1 and Promotes Their Ubiquitination and Degradation

Ismael Al‐Ramahi, Yung C. Lam, Hung-Kai Chen et al. · Journal of Biological Chemistry · 2006 · 202 citations · Full text

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Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

Giovanni Stévanin · Brain · 2003 · 200 citations · Full text

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CHIP Targets Toxic α-Synuclein Oligomers for Degradation

Julie E. Tetzlaff, Preeti Putcha, Tiago F. Outeiro et al. · Journal of Biological Chemistry · 2008 · 178 citations · Full text

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