| Title |
Genetic causes of Parkinson’s disease: UCHL-1
|
|---|---|
| Published in |
Cell and Tissue Research, June 2004
|
| DOI | 10.1007/s00441-004-0917-3 |
| Pubmed ID | |
| Authors |
Daniel G. Healy, Patrick M. Abou-Sleiman, Nicholas W. Wood |
| Abstract |
The ubiquitin proteasome system is an important cellular pathway that ubiquitinates damaged proteins and degrades them via the 26S proteasome. Abnormalities of this pathway can result in molecular protein aggregation and have been associated with Parkinson's disease (PD). UCHL-1, an enzyme central to the system, possesses catalytic hydrolase activity that can hydrolyze peptide-ubiquitin bonds and recycle ubiquitin monomers for re-use in the same process. Recently, UCHL-1 has been shown to possess a second dimerisation-dependent ligase activity and, at least in vitro, this ligase activity promotes alpha synuclein aggregation. UCHL-1 was first implicated in PD by the discovery of an I93M mutation identified in a German sib-pair with probable autosomal dominant PD. Although no further UCHL-1 mutations have been identified, a common non-synonymous S18Y polymorphism has been suggested to reduce disease susceptibility in non-mendelian forms of PD. In vitro functional data support this protective effect, with evidence that S18Y possesses reduced ligase activity compared with wild type UCHL-1. One study has found increased hydrolase activity associated with S18Y, although another study has not. Important issues regarding UCHL-1 and its role in PD remain inconclusive, especially regarding the pathogenicity of the mendelian I93M mutation. This review tries to address some of these uncertainties. |
Mendeley readers
The data shown below were compiled from readership statistics for 60 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 3% |
| Portugal | 1 | 2% |
| Unknown | 57 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 12 | 20% |
| Researcher | 12 | 20% |
| Student > Master | 8 | 13% |
| Student > Bachelor | 4 | 7% |
| Other | 4 | 7% |
| Other | 10 | 17% |
| Unknown | 10 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 24 | 40% |
| Medicine and Dentistry | 6 | 10% |
| Neuroscience | 5 | 8% |
| Biochemistry, Genetics and Molecular Biology | 4 | 7% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 3% |
| Other | 5 | 8% |
| Unknown | 14 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 August 2021.
All research outputs
#7,862,539
of 23,839,820 outputs
Outputs from Cell and Tissue Research
#527
of 2,279 outputs
Outputs of similar age
#19,347
of 55,442 outputs
Outputs of similar age from Cell and Tissue Research
#4
of 10 outputs
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