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Yong-hui Jiang

Researcher at Duke University

Publications -  152
Citations -  14253

Yong-hui Jiang is an academic researcher from Duke University. The author has contributed to research in topics: Autism & Exome sequencing. The author has an hindex of 47, co-authored 143 publications receiving 12372 citations. Previous affiliations of Yong-hui Jiang include Howard Hughes Medical Institute & University of Pittsburgh.

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De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

TL;DR: Intragenic mutation of UBE3A in AS is the first examples of a genetic disorder of the ubiquitin-dependent proteolytic pathway in mammals and may represent an example of a human genetic disorder associated with a locus producing functionally distinct imprinted and biallelically expressed gene products.
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Mutation of the angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation

TL;DR: The cytoplasmic abundance of p53 was increased in postmitotic neurons in m-/p+ mice and in AS, providing a potential biochemical basis for the phenotype through failure to ubiquitinate and degrade various effectors.
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Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice

TL;DR: In mice, Purkinje cells that express mutant ataxin-1 but not a ubiquitin-protein ligase have significantly fewer NIs, and in mice, the Purkinjen cell pathology is markedly worse than that of SCA1 mice.