Article
Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.
Ophthalmic genetics - 1 Jun 2011
Rudolph Thiemo, Sjölander Annica, Palmér Mona Seibt, Minthon Lennart, Wallin Anders, Andreasen Niels, Tasa Gunnar, Juronen Erkki, Blennow Kaj, Zetterberg Henrik, Zetterberg Madeleine
Abstract excerpt
BACKGROUND: Cataract is characterized by light-scattering protein aggregates. The ubiquitin-proteasome system has been proposed a role in proteolytic removal of these protein aggregates. Ubiquitin carboxyl-terminal esterase L1 (UCHL1) is a de-ubiquitinating enzyme with important functions in recycling of ubiquitin. A protective role of the p.S18Y polymorphism of the UCHL1 gene has been shown in Parkinson`s...
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