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Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.
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- Rudolph, Thiemo (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation
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- Sjölander, Annica, 1969 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institutionen för vårdvetenskap och hälsa,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,Institute of Health and Care Sciences
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- Palmér, Mona Seibt (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
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- Tasa, Gunnar (author)
- Juronen, Erkki (author)
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- (creator_code:org_t)
- 2011-01-26
- 2011
- English.
- In: Ophthalmic genetics. - : Informa UK Limited. - 1744-5094 .- 1381-6810. ; 32:2, s. 75-9
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- 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 disease. The current study aimed to examine possible effects on cataract formation.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Keyword
- Aged
- Aged
- 80 and over
- Cataract
- genetics
- Female
- Genotype
- Humans
- Male
- Middle Aged
- Nucleic Acid Hybridization
- Polymerase Chain Reaction
- Polymorphism
- Single Nucleotide
- Ubiquitin Thiolesterase
- genetics
Publication and Content Type
- ref (subject category)
- art (subject category)
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