총정리 GBA protein & activity (continued)
| Citation | Sample / assay | Notes |
|---|---|---|
| GBA activity | Differentiated from normal control | |
| LC3IIb | Altered (fib2), ie treaetment response to Bafilomycin A1 is altered. / right edge: Altered? | |
| Gold nanoparticle (AuNPS) assay | No difference | |
| α-galactosidase activity; Hexosaminidase activity; Mannosidase activity | Altered? | |
| (Sanchez-Martinez, 2016 #716) | Skin fibroblast / GBA protein | Non significantly reduced (30%?); right cells: ↓ (js 50%) |
| (Sanchez-Martinez, 2016 #716) | Skin fibroblast / GBA activity | =; right cells: ↓ (js 30%) 약간 overlap |
| (Pchelina, 2014 #588) | Plasma | = (fig2); right cells: ↑ aSyn oligomer (4x, overlap) (fig2) |
| (Ortega, 2016 #851) | Blood, GBA activity only | ↓; far-right cell: ↓↓ |
| (Atashrazm et al. 2018, PMID) Blood monocytes | GBA activity, by flow cytometry | N=39) GCase activity was significantly reduced in monocytes, but not lymphocytes, compared to controls. Monocyte GCase activity correlated with plasma ceramide levels in the Parkinson's disease patients. |
| (Atashrazm et al. 2018, PMID) | GBA activity note | GBA activity: N=9) PD only보다 조금 더 감소된 듯. FIG4의 a,b조합하면 normal:30, GBA-PD:22, GBA+PD:20정도로 보임 |
| (Atashrazm et al. 2018, PMID) | aSyn note | 다음은 논문에 없으니 이상? ↑ oligomeric aSyn (n = 41, GD TYPE 불명). (RBCs) are the main source of aSun in blood, and plasma protein levels could be artificially elevated by contamination of intact or lysed RBCs due to their abundance and fragility |
| (Alcalay et al. 2015, PMID 26117366) (DBS) "SPOT" cohort – Columbia University Medical Center | GBA protein | Not done |
| (Alcalay et al. 2015, PMID 26117366) | GBA activity by mass spectrometer, ie MS/MS, using an artificial substrate | N=48 (Spd + gbaPD), GBA activity was not correlated with age, disease duration, H&Y scale, age at diagnosis, levodopa equivalent dose, time to blood draw. |
| (Alcalay et al. 2015, PMID 26117366) | GBA activity |
Very slightly ↓ (-5%, 11.53 vs 12.11 in control) (Table4, baseline) Lower GBA activity tertile (ie 8.59 umol/l/h): ↓ UPDRS-III, higher MOCA, ↓ disease duration, older AAO, shorter disease duration), js, no conclusion from this! |
| (Alcalay et al. 2015, PMID 26117366) | right cells |
(n=81) 66.5% (mean 7.88, sd not said) of control. Overlap?) control 11.85 (3.40), so significant overlap (fig1b, 75% percentile in gba+pd seems 9.5, so almost 64% overlap!); Seems NA; PD+GBA Homoz: 7.2% of control (0.85) |
| (Alcalay et al. 2015, PMID 26117366) | GBA mRNA | |
| (Schondorf et al. 2014, PMID 24905578) CSF | [CSF] GBA activity | 15명: 거의 안 떨어짐, (GBA2도 거의 =), right cells: Fig7) 15명: ↓ (50% estimation, clearly differentiated!, fig7) (GBA2도 ↓) |
| (Schondorf et al. 2014, PMID 24905578) CSF | Other lysosomal hydrolases | ↓ β-Galactosidase; right cells: ↓↓ β-Galactosidase |
| (Lerche, 2021 #2575) (Tuebingen Parkinson Cohort, PPMI) | CSF | ↑ CSF GlcCer (6.4±4.8 ng/ml) (HC: 5.4 ±3.2); right cells: ↑ CSF GlcCer (6.6±4.8 ng/ml) (HC: 5.4 ±3.2) |
| (Lerche, 2021 #2575) | blood | ↓ GBA activity; right cells: ↓ GBA activity |
| (Schondorf et al., 2014) | iPSC-derived neurons | Fig8) ↑ LAMP1, ↑ LC3II (basal), ↓ LC3 influx; right cells repeat Fig8) ↑ LAMP1, ↑ LC3II (basal), ↓ LC3 influx |
| (Guedes et al. 2017, PMID 28890071) | Serum | 35명, (PD+Hetero와만 비교했음) |
| (Guedes et al. 2017, PMID 28890071) | Serum right cells | 29명, fig1a: =/↑ ceramide, =LacCer, fig2a: ↑ (ceramide, GlcCer (분리도 되나, 실제는 galactosylceremide과의 sum), GalCer, etc, 약간씩, vs PD only) GlcSph (실제는 galactosylsphingosine과의 sum)는 약간↓ (GBA+PD 1300, GBA-PD 1000), BMP difference not clear, ↑ LacCer |
| Chan et al. 2017, PMID 28212433) | [plasma] 100명 | ↑ GM3 (약간 증가) ↑ GlcCer (약간 증가), =GlcSph (? I can't find this), =LacCer, =GalCer |
| Mielke et al. 2013, PMID 24058461) | [plasma] | PDD 26명: ↑ GlcCer, ↑ ceramide, ↑ LacCer (전부 약간씩만 증가) |
| Balducci et al. 2007, PMID 17546678) | [CSF] H&Y 2-3 12명 | ↓ GBA activity (by 26%), ↓ (70%) a-mannosidase, ↓ (24%) b-mannosidase, ↓ (18%) b-hexosaminidase, and ↓ (28%) b-galactosidase |
| Parnetti et al. 2017, PMID 28843015) CSF | [CSF] 79 PD, H&Y mean 2.0 – GBA protein은 안 봤음 |
↓ GBA activity (fig3, PD+GBA보다는 덜 감소) 다음은 gba mutation status 고려안한 PD 일반 but, overlap and discrimination power 별로 안 좋음 (AUC, 0.72) 즉 감소여부가 환자인지여부와 큰 관계가 없다는 의미이므로 FDA가 subgroup stratification불인정할듯? correlate with cognition; ↓ cathepsin D; ↓ b-hexosaminidase: correlate with cognition |
| Parnetti et al. 2017 | right cells |
- ↓ (50%, visual estimation, fig 3, suppl에도 값 x). GBA activity (fig3, PD+GBA보다 약간 더 ↓) Age-matched normal control대비 fig3a, quatile2&3로는 differentiate보이지만, 95% PI로는 분명 NOT-DIFFERENTIATED; GBA activity거의 =; N수 너무 작아 무의미 |
| Parnetti, 2014 #335) CSF | GBA activity | ↓ GBA activity (table 2), correlated with H&Y staging (weak but significant) |
| Luebecker et al. 2019, PMID 2703585) | In SN postmortem |
In SN (약 7명) postmortem; GBA protein (not done일걸); Fig1) ↓ GBA1 activity (by 30%, no overlap) & GBA2 activity (by 30-40%, no overlap) (이것들은 Normal aging에서도 약간 ↓); ↑ GlcCer (137-174%, overlap), ↑ (x2) GlcSph, =LacCer, (164-216%), =cholesterol; 여러 ↓ lysosomal hydrolases (a-galactosidase 반이상감소, and β-hexosaminidase, β-galactosidase, neuraminidase), ↓ complex gangliosides (eg. GM1a, GD1a, GD1b and GT1b,) |
| Luebecker et al. 2019 | right cells |
In SN postmortem (약 3명, 결론난망), GBA protein (not done일걸); -fig1) ↓ GBA1 activity, ↓ GBA2, activity, 둘다 PD only와 비슷한 수준으로 감소.; - GlcCer: 정상인과 비슷하네?, GlcSph: non-significant increase to ~165% in the cohort of patients aged 70-79 y and a statistically significant increase to ~215% in patients aged >80, LacCer: variable, GlcSph: 정보x, Gangliosides: variable, a-galactosidase: PDonly처럼 감소 |
| 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) | |
| utin, 2016 #9 | 26: ↑ (trend) GlcCer in temporal cortex (only when normalized with GalCer isoform, might be due to ↑ GluCer as well as to ↓ GalCer) | |
| son et al. 2018, PMID 296214) | GBA activity | In temporal cortex: = in Braak stage II, III, ↓ in stage IV; right cells: ↓ (T369M, E326K one case each); far-right: ↓↓ |
| son et al. 2018, PMID 296214) | alpha-galactosidase A | In temporal cortex: = in Braak stage II, III, ↓ in stage IV; right cells: =; far-right: = |
| son et al. 2018, PMID 296214) | a-syn | right cells: = (vs PD only) |
| son et al. 2018, PMID 296214) | LAMP2 | In temporal cortex: = in Braak stage II, III, ↓ in stage IV; right cells: No data |
| son et al. 2018, PMID 296214) | Cathepsin D | In temporal cortex: = in Braak stage II, III, ↓ in stage IV |
| son et al. 2018, PMID 296214) | Cathepsin B | Too variable |
| dner et al. PMID 5861) postmortem | GBA protein | ↓ trend (cortex, putamen, SN); right cells: ↓ 39% in SN (differentiated) fig S3C |
| dner et al. PMID 5861) postmortem | GBA activity | ↓ trend (cortex, putamen); right cells: ↓ (23.8%, certainly not differentiated) fig S3 |
| dner et al. PMID 5861) postmortem | GlcSph |
? 모두 안 통계유의 (10-30%, but 거의 overlap) (cortex, putamen, SN); right cells: ? (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. |
| serini et al. PMID) | GBA protein | (할수 있었을 텐데) not done; right cells: 없음; next right cells: 없음; far-right: 없음 |
| serini et al. PMID) | GBA activity | ↓ than normal (by 23% in caudate) (by 12% in SN), no change in other regions |
| serini et al. PMID) | GBA mRNA | ↓ (SN) |
Uncertain Spans
| location | transcription | uncertainty |
|---|---|---|
| top of page | rows above the GBA activity / Differentiated from normal control line | The first visible rows start mid-table; preceding row labels and column headers are cropped out and continue from 20240722_182126. |
| arrow / equality marks | ↓, ↑, =, ↓↓, ↑↑ | Many cells contain small arrows / equality marks; OCR sometimes reads ↓ as 1 or omits arrows. Verify against body_full evidence before quantitative use. |
| (Atashrazm et al. 2018) | PMID missing; aSun vs aSyn; TYPE 불명; RBC note | The PMID number is not legible in this crop, and the small italic / Korean text at the right edge is partially clipped. aSun reads as written but is likely an authoring/OCR slip for aSyn. |
| (Alcalay et al. 2015) | Spd + gbaPD, umol/l/h, H&Y, AAO, 7.2% of control (0.85) | Cells are highlighted and line-wrapped; numeric values should be cross-checked. |
| Lower clipped citations | utin, 2016 #9, son et al. 2018, PMID 296214), dner et al. PMID 5861), serini et al. PMID) | The leftmost citation column is clipped at the photo edge; only the visible portions of the names/PMIDs are preserved. |