Harhangi, BS and Farrer, MJ and Lincoln, S and Bonifati, V and Meco, G and De Michele, G and Brice, A and Durr, A and Martinez, M and Gasser, T and Bereznai, B and Vaughan, JR and Wood, NW and Hardy, J and Oostra, BA and Breteler, MMB (1999) The lle93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease. NEUROSCI LETT , 270 (1) 1 - 4.
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Recently an Ile93Met mutation in the ubiquitin-carboxy-terminal-hydrolase-L1 gene (UCH-L1) has been described in a German family with Parkinson's disease (PD). The authors showed that this mutation is responsible for an impaired proteolytic activity of the UCH-L1 protein and may lead to an abnormal aggregation of proteins in the brain. in order to determine the importance of this or any other mutation in the coding region of the UCH-L1 gene in PD, we performed mutation analysis on Caucasian families with at least two affected sibs. We did not detect any mutations in the UCH-L1 gene, however, we cannot exclude mutations in the regulatory or intronic regions of the UCH-LI gene since these regions were not sequenced. We conclude that the UCH-L1 gene is not a major gene responsible for familial PD. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.
|Title:||The lle93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease|
|Keywords:||Parkinson's disease, ubiquitin-carboxy-terminal-hydrolase-L1, genetics, candidate gene, family studies, ALPHA-SYNUCLEIN, PREVALENCE, BODIES|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience|
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