총정리 GBA protein & activity (continued)
In CSF (20명) GlcCer: not measured ↑ LacCer, =GA2, ↑ GM3, ↓ GM2, ↓ GD3, ↓ GM1a, ↓ GD1A, ↓ GD1b, ↓ GT1b, ↓ Sum of these (61% of control)
In Serum (30명) =GlcCer, =LacCer, variable results in gangliosides (=Gb3, =Gb4, =GM3, =GM2, ↓ GM1a, ↓ GD1)
| Citation | Row label | Notes |
|---|---|---|
| (Boutin, 2016 #239) | 26 | ↓ (trend) GlcCer in temporal cortex (only when normalized with GalCer isoform, might be due to ↑ GluCer as well as to ↓ GalCer) |
| (Nelson et al. 2018, PMID 29196214) | GBA activity | In temporal cortex = in Braak stage II, III, ↓ in stage IV / ↓ (T369M, E326K one case each) / right edge: ↓↓ |
| (Nelson et al. 2018, PMID 29196214) | alpha-galactosidase A | In temporal cortex = in Braak stage II, III, ↓ in stage IV / = / right edge: = |
| (Nelson et al. 2018, PMID 29196214) | a-syn | = (vs PD only) |
| (Nelson et al. 2018, PMID 29196214) | LAMP2 | In temporal cortex = in Braak stage II, III, ↓ in stage IV / No data |
| (Nelson et al. 2018, PMID 29196214) | Cathepsin D | In temporal cortex: = in Braak stage II, III, ↓ in stage IV |
| (Nelson et al. 2018, PMID 29196214) | Cathepsin B | Too variable |
| (Gundner et al. 2019, PMID 30236861) postmortem | GBA protein | ↓ trend (cortex, putamen, SN) / ↓ 39% in SN (differentiated) fig S3C |
| (Gundner et al. 2019, PMID 30236861) postmortem | GBA activity | ↓ trend (cortex, putamen) / ↓ (23.8%, certainly not differentiated) fig S3 |
| (Gundner et al. 2019, PMID 30236861) postmortem | GlcSph | ? 모두 안 통계유의 (10-30%, but 거의 overlap) (cortex, putamen, SN) / ↓ (30%, 안 통계유의, overlap될락말락, normal 군은 5이하이긴 하네.) FIG S3: 본문과 달리 GBA+PD/DLB만 모아놓음, median임. (Cortex에서만 통계적유의 & 1.6x, SN_fc=1.2. 안 통계유의, Putamen: fc 1.3, p=0.129) 본문fig3:GBA+ vs GBA- 환자들간에 차이도 없어 보임 |
| (Chiasserini et al. 2015, PMID) | GBA protein | (할수 있었을 텐데) not done / right columns: 없음 |
| (Chiasserini et al. 2015, PMID) | GBA activity | ↓ than normal (by 23% in caudate) (by 12% in SN), no change in other regions |
| (Chiasserini et al. 2015, PMID) | GBA mRNA | ↓ (SN) |
| Gegg 2015 | GBA protein | ↓ than normal; inset text includes Cbll 30% of control, Putamen: 72%, SN 60% / center column: ↓ than normal, Cbll 30% of control, SN 50% |
| Gegg 2015 | GBA activity | |
| Gegg 2015 | GBA mRNA | No change |
| (Murphy et al. 2014, PMID 24477431) postmortem brain | GBA protein | ↓ (38%)(이유: cellular redistribution of a-syn and GBA) 즉 많아진 a-syn 때문에 ↑ GBA retention in ER / 왼쪽 결과는 anterior cingulate cortex에서의 감소결과임 / center/right: 없음 |
| (Murphy et al. 2014, PMID 24477431) postmortem brain | GBA activity | ↓ than normal (by 27%) / a-syn 없는 occipital cortex에서는 증가 |
| (Murphy et al. 2014, PMID 24477431) postmortem brain | GBA mRNA | ↓ trend only |
| (Murphy et al. 2014, PMID 24477431) postmortem brain | aSyn | |
| (Murphy et al. 2014, PMID 24477431) postmortem brain | Lysosomal | LAMP1,2,3, Cathepsin ↑ A, ↑ D, =K, ↓ BECLIN1, =LC3II, Ceramide sphingomyelin |
| Rocha et al. 2015, PMID 25909088 | GBA protein | 안 봤음. / center/right: 없음 |
| Rocha et al. 2015, PMID 25909088 | GBA activity | ↓ (and in aged normal control, too) |
| Rocha et al. 2015, PMID 25909088 | GBA mRNA | 안 봤음 |
| Rocha et al. 2015, PMID 25909088 | GlcSph | ↑ 60' SN (trends in 70s & 80s SN), No change in putamen, ↑ hippocampus (nc in frontal cortex, cerebellum) |
| Gegg et al. 2012, MID 3034917) (post-mortem) | GBA protein | ↓ (이유: ↓ gba binding to LIMP2) / ↓ (fig2a) differentiated / White bar: GBA+PD (cbll 30.4%, putamen 43.4%, SN 53.9%), Gray: GBA-PD / 없음 / in putamen & cerebellum 없음 |
| Gegg et al. 2012, MID 3034917) (post-mortem) | GBA activity | ↓ SN (33%) and cbll, putamen (by 19%), cerebellum (by 24%) / ↓ in all brain areas except frontal cx) SN (58% decrease), cerebellum (by 47%), frontal cortex (17%), amygdala (40%), and putamen (by 48%). (Average:42%) |
| Gegg et al. 2012, MID 3034917) (post-mortem) | combined note | Gba protein & activity 모두 normal control 대비 clearly differentiated |
| Gegg et al. 2012, MID 3034917) (post-mortem) | GBA mRNA | No change (저자: 아마도 d/t ↑ UPR) / center: No change |
| Gegg et al. 2012, MID 3034917) (post-mortem) | Cathepsin D | No change / center: No change |
| Gegg et al. 2012, MID 3034917) (post-mortem) | B-hexosaminidase | No change / center: No change |
| Gegg et al. 2012, MID 3034917) (post-mortem) | LC3II | Measurement of LC3-II levels in the putamen did not differ significantly between the groups / center: LC3-II levels in the putamen did not differ significantly between the groups (N=4) |
| Gegg et al. 2012 / Gegg et al. 2015, PMID 096906 | Glucosylceramide | No change in putamen & cerebellum ( / center: No change in putamen & cerebellum i. the residual function of the enzyme may be sufficient to prevent substrate accumulation, or ii. GlcCer accumulation is masked by shunting to these upstream gangliosides and other lipid species), iii. substrate accumulation in susceptible neurons might be masked by the more numerous glial cells (GBA와 Glucosylceramide 가 glial cell에도 존재하기는 하나, PD 에서 neuron이 죽으니, 여기서 이것들에 문제가 있다는 전제인 것 같음) |
| Gegg et al. 2012 / Gegg et al. 2015, PMID 096906 | Glucosylsphingosine | No change in cerebellum (↑ in putamen though, 하지만 GBA mutation 도 없이 증가되어봐야 무의미일 것) / center: No change in putamen & cerebellum |
| Gegg et al. 2012 / Gegg et al. 2015, PMID 096906 | GM2, GM3 gangliosides | center: A trend of increase |
| oi et al. 2011, D), tmortem brain | GBA protein | Normal과 비슷 / center: ↓ (조금) than normal, WB / right: 없음 and ↓↓ than normal (greatly diminished) |
| oi et al. 2011, D), tmortem brain | GBA activity | Normal과 비슷 / center: ↓ (35% of normal, N370S라고 적게 줄지 않았음.) / right edge: ↓↓ 4% of control, N370,L444다 심하게 감소 |
| oi et al. 2011, D), tmortem brain | GBA mRNA | 안 봤음. |
| zawa-Akanbi, 1 #2577) Postmortem (cingulate cortex) | GlcCer | GlcCer: = / center: GlcCer: = |
| zawa-Akanbi, #577) mortem | GBA protein | Normal과 비슷 (저자도 이렇게 얘기하고 있음) Maybe this is not specifically from PD-related region? / center: ↓ 20% / right: ↓ 20% (저자가 말했음.) 근데 overlap B. Frontal cortex from 5개 (three N370S, L444P, RecNci) vs 정상뇌 107 / far right: 없음 |
| zawa-Akanbi, #577) mortem | GBA activity | Normal과 비슷 (이게 다른 연구와 다른데, 여기선 사실 PD가 아니라 LBD임, 다른 연구에선 (아마 Chiasseri?)에선 LBD에선 GBA activity 감소가 경향만 있었던 것 같음. / center: ↓ 25% fig2보면 거의 clearly differentiated from normal control (우측 hetero only 와 같은 걸 보면, a-syn 이 GBA activity를 (bidirectioanally) 줄인다는 것은 안 맞는 것 같네. / right: ↓ 25% |
| zawa-Akanbi, #577) mortem | GBA mRNA | 안 봤음. |
| zawa-Akanbi, #577) mortem | LAMP1 / LAMP2 | |
| 2020 | ATP13A2 | |
| 2020 | Cathepsin D protein level | Spd 대비 약간 감소이나 정상인대비는 아니어서 해석 난망 |
| 2020 In vitro | Cathepsin D activity | Cathepsin D activity (Cathepsin D substrate solution (Enzo Life Sciences) → fluorescence |
| 2020 In vitro | cell source | human neural crest stem cell derived dopaminergic neurons |
Uncertain Spans
| location | transcription | uncertainty |
|---|---|---|
| top continuation | the In CSF / In Serum lipid lines | the page begins mid-table; the preceding source label is in 20240722_182130. |
| Nelson rows | Braak stage II, III, ↓ in stage IV | OCR sometimes confuses II / III / IV; preserved from visual/OCR agreement. |
| Gundner GlcSph note | dense Korean statistical note (SN_fc=1.2, Putamen: fc 1.3, p=0.129, etc.) | small line breaks and punctuation in the highlighted cell are uncertain. |
| Chiasserini source | 2015, PMID | The PMID number is not visible in OCR/crop. |
| Gegg source lines | Gegg 2015, Gegg et al. 2012, MID 3034917, PMID 096906 | the leftmost source column is clipped and wrapped across multiple rows; PMID prefixes (MID vs PMID) read as written. |
| Murphy lysosomal row | Cathepsin ↑ A, ↑ D, =K, ↓ BECLIN1 | the dense arrow/equality marks are small and span a narrow cell. |
| Lipid row paragraph | i. ... ii. GlcCer accumulation is masked by shunting... | the long italicised paragraph is small/tilted; transcribed from OCR/image evidence. |
| Clipped citations | oi et al. 2011, D), tmortem brain; zawa-Akanbi, 1 #2577); zawa-Akanbi, #577) mortem; 2020 In vitro | the leftmost citation column is clipped; only visible portions of names/dates are preserved. |
bidirectioanally | reads as written | likely an authoring typo for bidirectionally. |