The 37TrillionCells initiative for improving global healthcare via cell-based interception and precision medicine: focus on neurodegenerative diseases

LifeTime. Biomedical research initiative. Available from: https://lifetime-initiative.eu. Accessed 8 January 2024.

Rajewsky N, Almouzni G, Gorski SA, Aerts S, Amit I, Bertero MG, et al. LifeTime and improving European healthcare through cell-based interceptive medicine. Nature. 2020;587(7834):377–86.

Article  CAS  PubMed  PubMed Central  Google Scholar 

37TrilllionCells. Available from: https://37TrillionCells.com. Accessed 8 January 2024.

Di Lullo E, Kriegstein AR. The use of brain organoids to investigate neural development and disease. Nat Rev Neurosci. 2017;18(10):573–84.

Article  PubMed  PubMed Central  Google Scholar 

Mohamed NV, Sirois J, Ramamurthy J, Mathur M, Lepine P, Deneault E, et al. Midbrain organoids with an SNCA gene triplication model key features of synucleinopathy. Brain Commun. 2021;3(4):fcab223.

Article  PubMed  PubMed Central  Google Scholar 

Wray S. Modelling neurodegenerative disease using brain organoids. Semin Cell Dev Biol. 2021;111:60–6.

Article  PubMed  Google Scholar 

Molecule Flips Switch on Gene Regulation. Cancer Discov. 2023;13(9):1952–3.

Google Scholar 

Feehley T, O’Donnell CW, Mendlein J, Karande M, McCauley T. Drugging the epigenome in the age of precision medicine. Clin Epigenetics. 2023;15(1):6.

Article  PubMed  PubMed Central  Google Scholar 

Coulombe B, Derksen A, La Piana R, Brais B, Gauthier MS, Bernard G. POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination? Fac Rev. 2021;10:12.

Article  PubMed  PubMed Central  Google Scholar 

Bernard G, Chouery E, Putorti ML, Tetreault M, Takanohashi A, Carosso G, et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet. 2011;89(3):415–23.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Macintosh J, Perrier S, Pinard M, Tran LT, Guerrero K, Prasad C, et al. Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: a case report. Front Neurol. 2023;14:1254140.

Article  PubMed  PubMed Central  Google Scholar 

Tetreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, et al. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011;89(5):652–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, et al. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun. 2015;6:7623.

Article  PubMed  Google Scholar 

Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, et al. Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. Am J Hum Genet. 2018;102(4):676–84.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, et al. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun. 2019;10(1):707.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Roy AL, Conroy RS. Toward mapping the human body at a cellular resolution. Mol Biol Cell. 2018;29(15):1779–85.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Specht H, Emmott E, Petelski AA, Huffman RG, Perlman DH, Serra M, et al. Single-cell proteomic and transcriptomic analysis of macrophage heterogeneity using SCoPE2. Genome Biol. 2021;22(1):50.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Petelski AA, Emmott E, Leduc A, Huffman RG, Specht H, Perlman DH, Slavov N. Multiplexed single-cell proteomics using SCoPE2. Nat Protoc. 2021;16(12):5398–425.

Article  CAS  PubMed  Google Scholar 

Li S, Su K, Zhuang Z, Qin Q, Gao L, Deng Y, et al. A simple, rapid, and practical method for single-cell proteomics based on mass-adaptive coating of synthetic peptides. Sci Bull (Beijing). 2022;67(6):581–4.

Article  CAS  PubMed  Google Scholar 

Chen CX, You Z, Abdian N, Sirois J, Shlaifer I, Tabatabaei M, et al. Generation of homozygous PRKN, PINK1 and double PINK1/PRKN knockout cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 editing. Stem Cell Res. 2022;62:102806.

Article  CAS  PubMed  Google Scholar 

Valerio EC, Piscopo AC, Blaszczyk GJ, Sirois J, You Z, Soubannier V, Bernard G, Antel JP, Durcan TM. The use of a SOX10 reporter towards ameliorating oligodendrocyte lineage differentiation from human induced pluripotent stem cells. BioRxiv. 2023. https://doi.org/10.1101/2023.12.01.569591.

Soubannier V, Maussion G, Chaineau M, Sigutova V, Rouleau G, Durcan TM, Stifani S. Characterization of human iPSC-derived astrocytes with potential for disease modeling and drug discovery. Neurosci Lett. 2020;731:135028.

Article  CAS  PubMed  Google Scholar 

Chen CX, Abdian N, Maussion G, Thomas RA, Demirova I, Cai E, et al. A multistep workflow to evaluate newly generated iPSCs and their ability to generate different cell types. Methods Protoc. 2021;4(3):50.

Thomas, RA, Sirosis J, Shuming Li, Gestin A, Deyab G, Piscopo VE, Lépine P, Mathur M, Chen CXQ, Soubannier V, Goldsmith TM, Fawaz L, Durcan TM, Fon EA. CelltypeR: a flow cytometry pipeline to annotate, characterize and isolate single cells from brain organoids. BioRxiv. 2023. https://doi.org/10.1101/2022.11.11.516066.

Mohamed NV, Lepine P, Lacalle-Aurioles M, Sirois J, Mathur M, Reintsch W, et al. Microfabricated disk technology: rapid scale up in midbrain organoid generation. Methods. 2022;203:465–77.

Article  CAS  PubMed  Google Scholar 

Pinard M, Cloutier P, Poitras C, Gauthier MS, Coulombe B. Unphosphorylated form of the PAQosome core subunit RPAP3 binds ribosomal preassembly complexes to modulate ribosome biogenesis. J Proteome Res. 2022;21(4):1073–82.

Article  CAS  PubMed  Google Scholar 

Pinard M, Dastpeyman S, Poitras C, Bernard G, Gauthier MS, Coulombe B. Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H. Mol Brain. 2022;15(1):98.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lambert JP, Tucholska M, Go C, Knight JD, Gingras AC. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. J Proteomics. 2015;118:81–94.

Article  CAS  PubMed  Google Scholar 

Christian Poitras FL, Nathalie Grandvaux, Hao Song, Maxime Pinard, Benoit Coulombe. High-accuracy mapping of human and viral direct physical protein-protein interactions using the novel computational system AlphaFold-pairs. BioRxiv. 2023. https://doi.org/10.1101/2023.08.29.555151.

Jovic D, Liang X, Zeng H, Lin L, Xu F, Luo Y. Single-cell RNA sequencing technologies and applications: a brief overview. Clin Transl Med. 2022;12(3):e694.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ramazi S, Zahiri J. Posttranslational modifications in proteins: resources, tools and prediction methods. Database (Oxford). 2021;2021:baab012.

Dumay-Odelot H, Durrieu-Gaillard S, Da Silva D, Roeder RG, Teichmann M. Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription. Cell Cycle. 2010;9(18):3687–99.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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