title: Backbone and side-chain 1H, 15N and 13C resonance assignments of S18Y mutant of ubiquitin carboxy-terminal hydrolase L1.
abstract: Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1), also known as PGP9.5, is a protein of 223 amino acids. Although it was originally characterized as a deubiquitinating enzyme, recent studies indicate that it also functions as a ubiquitin (Ub) ligase and a mono-Ub stabilizer. It is highly abundant in brain, constituting up to 2% of total brain proteins. Down-regulation and extensive oxidative modification of UCH-L1 have been observed in the brains of Alzheimer's disease (AD) and Parkinson's disease (PD) patients. Mutations in the UCH-L1 gene have been reported to be linked to Parkinson's disease, in particular, the I93 M variant is associated with a higher susceptibility of PD in contrast to a higher protection against PD for the S18Y variant. Hence, the structure of UCH-L1 and the underlying effects of disease associated mutations on the structure and function of UCH-L1 are of considerable interest. Here, we report the NMR spectral assignments of the S18Y human UCH-L1 mutant with the aim to obtain better understanding about the risk of Parkinson's disease against structural and dynamical changes induced by this mutation on UCH-L1.
authors.affiliation: Department of Chemistry and Open Laboratory of Chemical Biology of the Institute of Molecular Technology for Drug Discovery and Synthesis, The University of Hong Kong, Pokfulam Road, Hong Kong SAR, People's Republic of China. tsehosum@hku.hk
authors.forename: Ho-Sum
authors.initials: HS
authors.lastname: Tse
authors.forename: Hong-Yu
authors.initials: HY
authors.lastname: Hu
authors.forename: Kong-Hung
authors.initials: KH
authors.lastname: Sze
mesh_terms: D000595:Amino Acid Sequence; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D019906:Nuclear Magnetic Resonance, Biomolecular; D010300:Parkinson Disease / Q000201:enzymology / Q000235:genetics; D043222:Ubiquitin Thiolesterase / Q000737:chemistry* / Q000235:genetics*
chemical_list: D043222:Ubiquitin Thiolesterase