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Brain and liver GCase activity are significantly decreased in heterozygous <i>GBA1</i> D409V KI mice, with varying differences in glucosphingolipid lipids in brain and liver.
Published 2021“…(A-B) GCase levels as assessed by the CBE/4-MU method are significantly decreased in the het <i>GBA1</i> D409V KI mice at 5 months of age in both brain (A) and liver (B). …”
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Decreased RNA Polymerase II Occupancy at Promoters and Coding Regions of Genes Down-Regulated in SCA7 Mice
Published 2013“…<p>(A–F) ChIP assays were performed using formaldehyde-fixed chromatin extracts of retina from 2-mo-old control (WT or R7N; dark grey) and R7E (light grey) mice. …”
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GluN2A(D731N) decreases channel open probability.
Published 2017“…The receptors were activated by EC<sub>50</sub> concentrations of glutamate with saturating concentration (100 μM) of glycine at holding potential of -40 mV. The di-heteromeric mutant (2A-D731N) and tri-heteromeric receptors with two-copies of the mutant subunit (D731N/D731N) showed a prolonged inhibition rate, reflecting a decreased channel open probability. …”