Marker priority, 202107 Comp lysosomal target dashboard, and Summary GBA protein & activity, GlcCer, GlcSph

(fluorometric assay kit) restored by Cerezyme and Ambroxol

Marker priority

markermarker forGBA deficiency → Autophagy perturbation, thenGDGBA-PDPDGBA activator is supposed toreports in GBA deficiency in some modelreports in GBA PD patientsconsistencytranslatability (CSF measurement possible)priority
AMBRA1 (autophagy/beclin-1 regulator 1)Macroautophagy InitiationNAMiddle
BECN1 (Beclin 1)Macroautophagy Initiation↑ (IVANOVA)↑ (Fernandez)Xicoy ↓(CSF), ↑(PBMC)↑ or ↓↓(source?)High
LC3IIMacroautophagy Autophagosome↑.=→ or ↑High
P62/SQSTM1Macroautophagy Autophagosome↑ or →→ or ↑High
Cathepsin DLysosome↓ (murphy)↑(?source?)HighYesHigh
Cathepsin ELysosomeNAYesMiddle
HSPA8 (HSC70)CMA↓ (Papag) aSyn 인식HighYesHigh
LAMP2/LAMP2ALysosome/CMA↑ or →YesMiddle
LAMP1LysosomeMiddle
LIMP2Lysosome↑(Tottori)↑(Fernandez)↑ or →YesMiddle

202107 Comp lysosomal target dashboard

markergene202107 Comp lysosomal target dashboard202107 Comp lysosomal target dashboard2023 Jaeyoon global proteomics
LC3MAP1LC3AOO
LIMP1SCARB1OO
LIMP2SCARB2OO
LAMP1LAMP1OO
LAMP2LAMP2OO
P62/SQSTM1SQSTM1OO
Beclin 1BECN1OO
Cathepsin BCTSBOO
Cathepsin DCTSDOO
Cathepsin ECTSEOO
HSC70HSPA8OO
GBAGBAOO

Summary GBA protein & activity, GlcCer, GlcSph

analyte / samplecitationGBA-PD+ DirectionnGBA+PD+ Directionn
GBA protein / Brain(Gundner et al., 2019)↓ trend (cortex, putamen, SN)↓ (~39%) DIFFERENTIATED FIG S310 (hc 15)
GBA protein / Brain(Gegg et al., 2012)↓ fig2a : 46-70% reduction, the mean is 57.4%12-14 (hc 6-10)
GBA protein / Brain(Murphy et al., 2014)↓ (38%, ant cingulate cortex), = in occipital cortexNot done
GBA protein / CSF(Mullin et al., 2020, Ambroxol trial, LCMS)9HC 대비 자료 X (꽤 ↓ than GBA-PD)8
GBA activity / Brain(Gundner et al., 2019)↓ trend (-~10%) cortex, putamen), = (SN)~30↓ (23.8%, certainly not differentiated) fig S310
GBA activity / Brain(Gegg et al., 2012)↓ (-20-30%, SN, cerebellum, putamen)14↓ (-20-60%, SN, cblllti, putamen)14
GBA activity / Brain(Nelson et al., 2018)↓ (only in H&Y4, temporal cortex)482
GBA activity / Brain(Huebecker et al., 2019)SN: ↓ (-30%)73
GBA activity / Brain(Chiasserini et al., 2015)↓ (-14%, SN), ↓ (-20%, Caudate), =(cortex, hippocampus, cerebellum, putamen)26
GBA activity / Brain(Murphy et al., 2014)↓ (-27%)19
GBA activity / Brain(Leyns, 2022 #2182)시간없어 확인 안 했음.↓ by 39%72 (16 PD, 56 PDD, note:)
GBA activity / Brain(Rocha et al., 2015)↓ (-30-50%, hippocampus, cerebellum) = (cortex)23
GBA activity / CSF(Schondorf et al., 2014)=15↓ (-50%, fig7a, age-matched HC 대비 differentiate 되는 듯 보임.) Visual estimation: 700 vs 35015
GBA activity / CSF(Parnetti et al., 2017)↓ (-25%)~70↓↓ (-50%, fig3a, quatile2&3 로는 differentiate 보이지만, 95% PI 로는 분명 NOT-DIFFERENTIATED)10
GBA activity / CSF(Balducci et al., 2007)12
GBA activity / CSF(Mullin et al., 2020, Ambroxol trial)9꽤 ↓ than sPD (but HC 대비 data 없을 것 같아)8
GBA activity / CSF(Parnetti, 2014 #835)~70
GBA activity / CSF(Oftedal, 2023 #2655)↓ (17.4%)105↓↓ (23.1%, but NS vs GBA-PD)12
GBA activity / DBS(Alcalay et al., 2015)↓ (6%, 11.85 vs 11.14)517↓ (-33%)81
GBA activity / DBS(Omer, 2022 #2659) Biogen= (4.77 vs 4.85)30↓ (21%, ie 3.15 vs 4.85)102
GBA activity / DBS(Huh et al. 2020, PMID 32540937) HBS-1, HBS2, PDRP=A lot!
GBA activity / DBS(Alcalay et al. 2020, PMID 32888397) PPMI, MS/MS=392
GBA activity / DBS(Lerche et al. 2021, PMID 33547828) PPMI 이거 대신 바로 위 Alcalay 2020 쓰자 (단위이상, % substrate degradation)=277
GBA activity / blood(Lerche, 2021 #2575) PPMI)=277↓ (29%, 11.78 vs 8.35)31
GBA activity / Monocyte(Atashrazm et al., 2018)N=39) GCase activity was significantly reduced in monocytes,GBA activity: N=9) ...
GBA activity / PBMC(Papagiannakis, 2015 #753)=↓ (js 40%), overlap 되는듯 (fig2D)
GBA activity / blood(Ortega, 2016 #851) Blood, GBA activity onlyCan't know815
GlcCer / Brain(Gegg et al., 2015) putamen=5= (오히려 약간 ↓)5
GlcCer / Brain(Boutin et al., 2016)↑ (trend)26
GlcCer / Brain(Kurzawa-Akanbi 2021 #2577) Frontal and cingulate cortex, 10 controls== (Note: ↑ ceramides)21 (3 PD, 4 PDD, 14 DLB)
GlcCer / Brain(Leyns, 2022 #2182)시간없어 확인 안 했음.↑ (30%)72 (16 PD, 56 PDD, 14 DLB) (note: n of HC=70)
GlcCer / Brain(Huebecker et al., 2019)SN: ↑ (~1.5x)73
GlcCer / CSF(Huh, 2021 #2538, PPMI)= (N=227), (LC-MS/MS)227↑ (18%, median, sig, but overlap)44
GlcCer / CSF(Lerche, 2021 #2575, PPMI)↑ (N=276) UPLC-MS/MS (6.42 vs 5.45), 같은 PPMI 인데 Huh 와 상이!276↑ (21%, mean, sig but small d=0.28. 6.6±4.85 vs 5.45±3.18)31

Uncertain Spans

locationtranscriptionuncertainty
Marker priority tablearrow / equality glyphs (, , =, ↑ or →, → or ↑) and ↑.=small dense glyphs and highlighted background; OCR sometimes reads as 1 or omits arrows.
Summary table / Atashrazm rowGBA activity: N=9) ...the right cell trails off; the highlighted continuation in the source extends below the photo edge.
Summary table / Schondorf rowVisual estimation: 700 vs 350the visual estimation values are small and partly washed out at the crop seam.