التفاصيل البيبلوغرافية
| العنوان: |
Introduction of the D409V point mutation to the GBA1 gene does not affect GBA1 mRNA transcription or GCase protein translation. |
| المؤلفون: |
Nicole K. Polinski (10947787), Terina N. Martinez (10947790), Alexander Gorodinsky (668217), Ralph Gareus (218030), Michael Sasner (9625725), Mark Herberth (10947793), Robert Switzer (10947796), Syed O. Ahmad (10947799), Mali Cosden (2584993), Monika Kandebo (10947802), Robert E. Drolet (3839674), Peter D. Buckett (10947805), Weisong Shan (10947808), Yi Chen (38576), Lee J. Pellegrino (10947811), Gregory D. Ellsworth (10947814), Leo B. Dungan (10947817), Warren D. Hirst (238891), Sean W. Clark (10947820), Kuldip D. Dave (10947823) |
| سنة النشر: |
2021 |
| المجموعة: |
Smithsonian Institution: Digital Repository |
| مصطلحات موضوعية: |
Cell Biology, Genetics, Neuroscience, Biological Sciences not elsewhere classified, novel GBA 1 mouse model, Decreased glucocerebrosidase activity, glycosphingolipid substrate metabolism, GD, GBA 1 gene, novel GBA 1 D 409V knock-in mouse m., GBA 1 D 409V KI mouse model, PD, GBA 1 D 409V knock-in, lysosomal enzyme beta-glucocerebros., GBA 1 D 409V KI mice, GBA 1, study GCase-related mechanisms, GBA 1 mutations, GBA 1 mutation carriers |
| الوصف: |
(A) GBA1 mRNA levels assessed by qPCR in frontal cortex tissue from 4 month old C57Bl/6 wild type (WT) mice, GBA1 D409V KI heterozygous (HET) mice, and GBA1 D409V KI homozygous (HOM) mice. GBA1 mRNA levels are normalized to GAPDH as the housekeeping gene, with graphs depicting fold changes relative to WT expression levels. GBA1 mRNA levels are consistent between groups with no significant differences observed (n = 8/group; p > 0.05). WT levels measure 1.016±0.068, HET levels measure 1.185±0.140, HOM levels measure 0.9066±0.037. (B-C) GCase protein levels assessed by Western blot in forebrain tissue (caudal to frontal cortex) from the same mice used for mRNA analysis. (B) GCase protein levels are normalized to β-actin as the housekeeping protein, with graphs depicting fold changes relative to WT GCase protein expression levels. GCase protein is unchanged in the HET and HOM GBA1 D409V KI mice as compared to WT (n = 7-8/group; p > 0.05). WT levels measure 1.000±0.052, HET levels measure 1.091±0.120, HOM levels measure 1.114±0.057. (C) Representative image of Western blot results for alternating samples of WT, HET, and HOM GBA1 D409V KI mice. Abbreviations: SEM, standard error of the mean; WT, wild type; GBA1 , gene encoding human glucocerebrosidase; GCase, glucocerebrosidase; KI, knockin; HET, heterozygous; HOM, homozygous; mo, month. |
| نوع الوثيقة: |
still image |
| اللغة: |
unknown |
| Relation: |
https://figshare.com/articles/figure/Introduction_of_the_D409V_point_mutation_to_the_i_GBA1_i_gene_does_not_affect_i_GBA1_i_mRNA_transcription_or_GCase_protein_translation_/14757196 |
| DOI: |
10.1371/journal.pone.0252325.g002 |
| الاتاحة: |
https://doi.org/10.1371/journal.pone.0252325.g002 |
| Rights: |
CC BY 4.0 |
| رقم الانضمام: |
edsbas.290E556F |
| قاعدة البيانات: |
BASE |