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Ya-Zhen Zhu

Researcher at University of California, Irvine

Publications -  15
Citations -  6657

Ya-Zhen Zhu is an academic researcher from University of California, Irvine. The author has contributed to research in topics: Huntingtin & Huntingtin Protein. The author has an hindex of 14, co-authored 14 publications receiving 6394 citations.

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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

TL;DR: DNA studies revealed point mutations in the FGFR3 gene in ACH heterozygotes and homozygotes, which result in the substitution of an arginine residue for a glycine at position 380 of the mature protein, which is in the transmembrane domain ofFGFR3.
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The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription.

TL;DR: The possibility that expanded repeat htt causes aberrant transcriptional regulation through its interaction with cellular transcription factors which may result in neuronal dysfunction and cell death in HD is raised.
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SUMO modification of Huntingtin and Huntington's disease pathology

TL;DR: It is reported that a pathogenic fragment of Htt (Httex1p) can be modified either by small ubiquitin-like modifier (SUMO)–1 or by ubiquit in on identical lysine residues.
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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

TL;DR: None of these mutations were found in 50 controls showing that mutations affecting different functional domains of FGFR3 cause different forms of this lethal disorder.