Results 161 to 170 of about 10,389 (214)

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease.

open access: yesBrain, 2014
Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are the most frequent known genetic risk factor for Parkinson’s disease.
Nahid Tayebi   +2 more
exaly   +3 more sources

Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients

open access: yesMovement Disorders, 2017
Background: Reduced β-glucocerebrosidase activity was observed in postmortem brains of both GBA1 mutation carrier and noncarrier Parkinson's disease patients, suggesting that lower β-glucocerebrosidase activity is a key feature in the pathogenesis of PD.
Lucilla Parnetti   +2 more
exaly   +3 more sources

Glucocerebrosidase is shaking up the synucleinopathies [PDF]

open access: yesBrain, 2014
The lysosomal enzyme glucocerebrosidase, encoded by the glucocerebrosidase gene, is involved in the breakdown of glucocerebroside into glucose and ceramide. Lysosomal build-up of the substrate glucocerebroside occurs in cells of the reticulo-endothelial system in patients with Gaucher disease, a rare lysosomal storage disorder caused by the recessively
Ellen Sidransky   +2 more
exaly   +3 more sources

Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease

open access: yesBiochimica Et Biophysica Acta - Molecular Basis of Disease, 1993
In addition to the lysosomal glucocerebrosidase, a distinct beta-glucosidase that is also active towards glucosylceramide could be demonstrated in various human tissues and cell types.
Johannes Aerts   +2 more
exaly   +2 more sources

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