Variant Position Affects the Phenotype at the Pluripotent Stem Cell Level in CADASIL

Ahn, Y., An, J. H., Yang, H. J., Lee, W. J., Lee, S. H., Park, Y. H., Lee, J. H., Lee, H. J., Lee, S. H., & Kim, S. U. (2024). Blood vessel organoids generated by base editing and harboring single nucleotide variation in Notch3 effectively recapitulate CADASIL-related pathogenesis. Molecular Neurobiology. https://doi.org/10.1007/s12035-024-04141-4

Article  PubMed  PubMed Central  Google Scholar 

Brulin, P., Godfraind, C., Leteurtre, E., & Ruchoux, M. M. (2002). Morphometric analysis of ultrastructural vascular changes in CADASIL: Analysis of 50 skin biopsy specimens and pathogenic implications. Acta Neuropathologica, 104(3), 241–248. https://doi.org/10.1007/s00401-002-0530-z

Article  PubMed  Google Scholar 

Chabriat, H., Joutel, A., Dichgans, M., Tournier-Lasserve, E., & Bousser, M. G. (2009). Cadasil. Lancet Neurology, 8(7), 643–653. https://doi.org/10.1016/S1474-4422(09)70127-9

Article  PubMed  Google Scholar 

Chabriat, H., Vahedi, K., Bousser, M. G., Iba-Zizen, M. T., Joutel, A., Nibbio, A., Nagy, T. G., Tournier Lasserve, E., Krebs, M. O., Julien, J., Ducrocq, X., Levasseur, M., Mas, J. L., Dubois, B., Homeyer, P., & Lyon-Caen, O. (1995). Clinical spectrum of CADASIL: a study of 7 families. Lancet, 346(8980), 934–939. https://doi.org/10.1016/s0140-6736(95)91557-5

Article  CAS  PubMed  Google Scholar 

Chen, G., Li, Z., Liu, Y., Chen, D., Beers, J., Cudrici, C., Ferrante, E. A., Schwartzbeck, R., Dmitrieva, N., Yang, D., Zou, J., Iruela-Arispe, M. L., & Boehm, M. (2020). Generation of human induced pluripotent stem cells (NIHTVBi004-A, NIHTVBi005-A, NIHTVBi006-A, NIHTVBi007-A, NIHTVBi008-A) from 5 CADASIL patients with NOTCH3 mutation. Stem Cell Research, 45, 101821. https://doi.org/10.1016/j.scr.2020.101821

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cho, B. P. H., Jolly, A. A., Nannoni, S., Tozer, D., Bell, S., & Markus, H. S. (2022). Association of NOTCH3 variant position with stroke onset and other clinical features among patients with CADASIL. Neurology, 99(5), e430–e439. https://doi.org/10.1212/WNL.0000000000200744

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cho, B. P. H., Nannoni, S., Harshfield, E. L., Tozer, D., Graf, S., Bell, S., & Markus, H. S. (2021). NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: An analysis of 200 000 participants. Journal of Neurology, Neurosurgery and Psychiatry, 92(7), 694–701. https://doi.org/10.1136/jnnp-2020-325838

Article  PubMed  Google Scholar 

Dupre, N., Gueniot, F., Domenga-Denier, V., Dubosclard, V., Nilles, C., Hill-Eubanks, D., Morgenthaler-Roth, C., Nelson, M. T., Keime, C., Danglot, L., & Joutel, A. (2024). Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL. Journal of Clinical Investigation. https://doi.org/10.1172/JCI175789

Article  PubMed  PubMed Central  Google Scholar 

Fernandez-Susavila, H., Mora, C., Aramburu-Nunez, M., Quintas-Rey, R., Arias, S., Collado, M., Lopez-Arias, E., Sobrino, T., Castillo, J., Dell’Era, P., & Campos, F. (2018). Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation. Stem Cell Research, 28, 16–20. https://doi.org/10.1016/j.scr.2018.01.023

Article  CAS  PubMed  Google Scholar 

Ghezali, L., Capone, C., Baron-Menguy, C., Ratelade, J., Christensen, S., Ostergaard Pedersen, L., Domenga-Denier, V., Pedersen, J. T., & Joutel, A. (2018). Notch3(ECD) immunotherapy improves cerebrovascular responses in CADASIL mice. Annals of Neurology, 84(2), 246–259. https://doi.org/10.1002/ana.25284

Article  CAS  PubMed  Google Scholar 

Gravesteijn, G., Hack, R. J., Mulder, A. A., Cerfontaine, M. N., van Doorn, R., Hegeman, I. M., Jost, C. R., Rutten, J. W., & Lesnik Oberstein, S. A. J. (2022). NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature. Neuropathology and Applied Neurobiology, 48(1), e12751. https://doi.org/10.1111/nan.12751

Article  CAS  PubMed  Google Scholar 

Gravesteijn, G., Munting, L. P., Overzier, M., Mulder, A. A., Hegeman, I., Derieppe, M., Koster, A. J., van Duinen, S. G., Meijer, O. C., Aartsma-Rus, A., van der Weerd, L., Jost, C. R., van den Maagdenberg, A., Rutten, J. W., & Lesnik Oberstein, S. A. J. (2020). Progression and classification of granular osmiophilic material (GOM) deposits in functionally characterized human NOTCH3 transgenic mice. Translational Stroke Research, 11(3), 517–527. https://doi.org/10.1007/s12975-019-00742-7

Article  CAS  PubMed  Google Scholar 

Gunda, B., Herve, D., Godin, O., Bruno, M., Reyes, S., Alili, N., Opherk, C., Jouvent, E., During, M., Bousser, M. G., Dichgans, M., & Chabriat, H. (2012). Effects of gender on the phenotype of CADASIL. Stroke, 43(1), 137–141. https://doi.org/10.1161/STROKEAHA.111.631028

Article  PubMed  Google Scholar 

Hack, R. J., Cerfontaine, M. N., Gravesteijn, G., Tap, S., Hafkemeijer, A., van der Grond, J., Witjes-Ane, M. N., Baas, F., Rutten, J. W., & Lesnik Oberstein, S. A. J. (2022). Effect of NOTCH3 EGFr group, sex, and cardiovascular risk factors on CADASIL clinical and neuroimaging outcomes. Stroke, 53(10), 3133–3144. https://doi.org/10.1161/STROKEAHA.122.039325

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hack, R. J., Gravesteijn, G., Cerfontaine, M. N., Santcroos, M. A., Gatti, L., Kopczak, A., Bersano, A., Duering, M., Rutten, J. W., & Lesnik Oberstein, S. A. J. (2023). Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction. Brain, 146(7), 2913–2927. https://doi.org/10.1093/brain/awac486

Article  PubMed  Google Scholar 

Hack, R. J., Rutten, J. W., Person, T. N., Li, J., Khan, A., Griessenauer, C. J., Regeneron Genetics, C., Abedi, V., Lesnik Oberstein, S. A. J., & Zand, R. (2020). Cysteine-altering NOTCH3 variants are a risk factor for stroke in the elderly population. Stroke, 51(12), 3562–3569. https://doi.org/10.1161/STROKEAHA.120.030343

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jalil, S., Keskinen, T., Maldonado, R., Sokka, J., Trokovic, R., Otonkoski, T., & Wartiovaara, K. (2021). Simultaneous high-efficiency base editing and reprogramming of patient fibroblasts. Stem Cell Reports, 16(12), 3064–3075. https://doi.org/10.1016/j.stemcr.2021.10.017

Article  CAS  PubMed  PubMed Central  Google Scholar 

Joutel, A., Andreux, F., Gaulis, S., Domenga, V., Cecillon, M., Battail, N., Piga, N., Chapon, F., Godfrain, C., & Tournier-Lasserve, E. (2000). The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. The Journal of Clinical Investigation, 105(5), 597–605. https://doi.org/10.1172/JCI8047

Article  CAS  PubMed  PubMed Central  Google Scholar 

Joutel, A., Corpechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenga, V., Cecillion, M., Marechal, E., Maciazek, J., Vayssiere, C., Cruaud, C., Cabanis, E. A., Ruchoux, M. M., Weissenbach, J., Bach, J. F., Bousser, M. G., & Tournier-Lasserve, E. (1996). Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature, 383(6602), 707–710. https://doi.org/10.1038/383707a0

Article  CAS  PubMed  Google Scholar 

Joutel, A., Vahedi, K., Corpechot, C., Troesch, A., Chabriat, H., Vayssiere, C., Cruaud, C., Maciazek, J., Weissenbach, J., Bousser, M. G., Bach, J. F., & Tournier-Lasserve, E. (1997). Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet, 350(9090), 1511–1515. https://doi.org/10.1016/S0140-6736(97)08083-5

Article  CAS  PubMed  Google Scholar 

Kelleher, J., Dickinson, A., Cain, S., Hu, Y., Bates, N., Harvey, A., Ren, J., Zhang, W., Moreton, F. C., Muir, K. W., Ward, C., Touyz, R. M., Sharma, P., Xu, Q., Kimber, S. J., & Wang, T. (2019). Patient-specific iPSC model of a genetic vascular dementia syndrome reveals failure of mural cells to stabilize capillary structures. Stem Cell Reports, 13(5), 817–831. https://doi.org/10.1016/j.stemcr.2019.10.004

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ling, C., Liu, Z., Song, M., Zhang, W., Wang, S., Liu, X., Ma, S., Sun, S., Fu, L., Chu, Q., Belmonte, J. C. I., Wang, Z., Qu, J., Yuan, Y., & Liu, G. H. (2019). Modeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells. Protein & Cell, 10(4), 249–271. https://doi.org/10.1007/s13238-019-0608-1

Article  CAS  Google Scholar 

MacArthur, C. C., Pradhan, S., Wetton, N., Zarrabi, A., Dargitz, C., Sridharan, M., Jackson, S., Pickle, L., & Lakshmipathy, U. (2019). Generation and comprehensive characterization of induced pluripotent stem cells for translational research. Regenerative Medicine, 14(6), 505–524. https://doi.org/10.2217/rme-2018-0148

Article  CAS  PubMed  Google Scholar 

Manini, A., & Pantoni, L. (2021). CADASIL from bench to bedside: Disease models and novel therapeutic approaches. Molecular Neurobiology, 58(6), 2558–2573. https://doi.org/10.1007/s12035-021-02282-4

Article  CAS  PubMed  PubMed Central  Google Scholar 

Monet-Lepretre, M., Haddad, I., Baron-Menguy, C., Fouillot-Panchal, M., Riani, M., Domenga-Denier, V., Dussaule, C., Cognat, E., Vinh, J., & Joutel, A. (2013). Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: A new pathomechanism in CADASIL. Brain, 136(Pt 6), 1830–1845. https://doi.org/10.1093/brain/awt092

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