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Literature summary for 3.2.1.45 extracted from

  • Mata, I.F.; Samii, A.; Schneer, S.H.; Roberts, J.W.; Griffith, A.; Leis, B.C.; Schellenberg, G.D.; Sidransky, E.; Bird, T.D.; Leverenz, J.B.; Tsuang, D.; Zabetian, C.P.
    Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders (2008), Arch. Neurol., 65, 379-382.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine glucocerebrosidase mutations exert a large effect on susceptibility for Lewis body disorders at the individual level but are associated with a modest population-attributable risk in individuals of European ancestry Homo sapiens

Protein Variants

Protein Variants Comment Organism
L444P mutation isolated from patient with Gaucher disease. Examination of the frequency of L444P mutation in patients with Parkinson's disease and patients with demetia with Lewis bodies Homo sapiens
N370S mutation isolated from patient with Gaucher disease. Examination of the frequency of N370S mutation in patients with Parkinson's disease and patients with demetia with Lewis bodies Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
patients with Parkinson's disease and patients with demetia with Lewis bodies
-