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Shipment

Narita airport
Nanka Express
Yamato onuBW3F-20Matsui HidekiWhere?
The person receiveAllocate slot (tank no, slot no)Transfer to central LN tanks

Sigma-1 Receptor (σ1R)

  • a chaperone protein
  • Mechanism

Fundamental Functions of Sig-1R (SIGMAR1) on ER Stress Regulation in Neurodegenerative Disorders

① Misfolded proteins increasing with age induce ER stress and modification in calcium homeostasis

② Calcium depletion in ER activates Sig-1R, which separates from BiP

Pathway a: IP3R and ATP Production

③a: Sig-1R interacts with IP3R and allows ankyrin to be detached from IP3R, which stabilize and enhance opening of IP3R

④a: Calcium ions efflux from ER lumen into mitochondria through IP3R, VDAC, and MCU

⑤a: Calcium ions increase in mitochondria enhances ATP production through TCA cycle and oxidative phosphorylation

Pathway b: Unfolded Protein Response (UPR)

③b: Sig-1R interacts with IRE1

④b: Activated IRE1 acts as an endonuclease and is able to cut an intron from xbp1 to allow its translation

⑤b: XBP1 allows the transcription of ER chaperone genes and pro-survival genes

Cody S, Goguadze N, Yasui Y, Kimura Y, Wang SM, Shankadze N, Wu HE, Su TP. Knocking Out Sigma-1 Receptors Reveals Diverse Health Problems. Cell Mol Neurobiol. 2020 Oct 23. doi: 10.1007/s10571-020-00983-3. Epub ahead of print. PMID: 33095392. ATP: adenosine triphosphate; BiP: binding immunoglobulin protein; ER: endoplasmic reticulum; ERAD: endoplasmic-reticulum-associated protein degradation; IP3R: inositol trisphosphate receptor; IRE1: inositol-requiring enzyme 1; MCU: mitochondrial calcium uniporter; OxPhos: oxidative phosphorylation; TCA: tricarboxylic acid cycle; VDAC: voltage-dependent anion channel; XBP1: X-box binding protein 1; xbp1s: xbp1 mRNA spliced; xbp1u: xbp1 mRNA unspliced.

σ1R PET

Study
C-SA-4503(11C-labeled 1-[2-(3,4-dimethoxyphenthyl)]-4-(3-phenylpropyl)-piperazine dihydrochloride(Mansur, 2018 #876)HV
MIND-MAPsPD
3F-FTC-146ANAVEX®2-73 (blarcamesineMouse, TO study

SILK

(Stable Isotope Labeling Kinetics)

  • reported in Sato et al (2018) Neuron — tau kinetics in iPSC-derived neuron cultures
  • aSyn — biomarkers relevant to
  • ?? — what are the readouts? What are benefits compared to just looking at aSyn level in the lysates or supernatant
  • application: kinetics, aSyn turnover vs aSyn degradation (Protak) vs aggregate formation
  • they have a company called C2N Diagnostics (http://www.c2ndiagnostics.com/) that provides SILK as a service to pharma for a variety of biomarkers relevant to Alzheimer’s disease and ALS (see the list here: http://www.c2ndiagnostics.com/our-products/biomarker-assays/).
  • C2N does not currently have a marketed assay for alpha-syn
  • Paul Kotzbauer has NIH grants to work on this.

Communi[ty]

What natural history data are you aware of that is tracking GBA patients longitudinally? What data and samples are they collecting (cognition, imaging, plasma samples?)Groups looking at progression: PPMI (richest), Columbia (Roy N. Alcalay).
Cambridge (The Barker/Williams-Gray Lab: Roger A Barker, Caroline H Williams-Gray, Thomas Stoker seems a junior)
lysosomeWhat may be the role of lysosomal markers (eg. CSF) as pharmacodynamic biomarkers and potentially for patient stratification for GBA-directed treatment?Time course of lysosomal marker change?
How can we develop robust lysosomal markers?Association with protein degradation
rsCSF sample from PPMILarge genotyping: Parkinson Foundation genotyping, MJF, Ro-Pat study (centigene genotyping
earlyAdvanced
DatScanNot suitable due/to floor effect
↑ AE
Desperate and willing to accept an invasive Tx
↑ non-motor symptoms (eg. Cognition, ie

Uncertain Spans

  • Many of the SharePoint URLs are extremely long and word-wrap mid-token in the source layout; the URLs are reproduced as a single contiguous string per row but exact token boundaries (especially around ”?”, ”&” and “%2D” segments) could not be visually verified at this resolution.
  • The shipment table column header “Yamato onu” is reproduced as printed; “onu” may be a truncation or typographical variant of a courier name and was not corrected.
  • The Sigma-1R review citation block is reproduced as a continuous italic caption; the abbreviation list at the bottom of the figure was partly clipped at the right edge (“xbp1u: xbp1 mRNA unspliced”), and any further abbreviations beyond that are not visible on this photo.
  • The leftmost column of the “Communi[ty]” table is partly clipped under the table border — some row labels visible only as fragments (“lysosome”, “rs”) are reproduced as printed without inferring the full label.
  • The header label of the second-to-last bottom table is “early / Advanced” only; whether a third intermediate-stage column existed in the source is not determinable from this photo.