Duran, R and McNeill, A and Mehta, A and Hughes, D and Cox, T and Deegan, P and Schapira, AH and Hardy, J (2012) Novel pathogenic mutations in the glucocerebrosidase locus. Mol Genet Metab , 106 (4) 495 - 497. 10.1016/j.ymgme.2012.05.006.
To determine the frequency of mutations responsible for Gaucher's disease, we systematically sequenced the GBA1 gene as part of a molecular characterization of 73 adult patients in the United Kingdom. Five hitherto unknown pathogenic variants were identified, one of which is a splice site change; the others are novel missense mutations. Given that GBA1 gene mutations are an important risk factor for the development of Parkinson's disease, we contend that a complete analysis and molecular characterization of both the known and novel GBA1 variants will be needed before the biochemical processes underlying this genetic association can be fully understood.
|Title:||Novel pathogenic mutations in the glucocerebrosidase locus.|
|Open access status:||An open access publication|
|Additional information:||PMCID: PMC3426931|
|Keywords:||Adolescent, Adult, Aged, Aged, 80 and over, Computational Biology, DNA Mutational Analysis, Female, Genetic Loci, Glucosylceramidase, Great Britain, Humans, Male, Middle Aged, Mutation, Young Adult|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Clinical Neuroscience|
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience
UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Wolfson Institute and Cancer Institute Administration > Cancer Institute > Research Department of Haematology
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