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Neuronal impact of patient-specific aberrant NRXN1α splicing
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“Furthermore, using patient-derived NRXN1+/− hiPSCs with unique 5’- or 3’-deletions in the gene, we uncovered wide-scale reduction in wildtype NRXN1α isoform levels and, robust expression of dozens of novel isoforms from the 3’-deletion allele only15.”
From Phenotypic complexities of rare heterozygous neurexin-1 deletions (2025) · cites this paper as [15]
In the citing paper
“Overexpression of individual wildtype isoforms (WT) ameliorated reduced neuronal activity in patient-derived NRXN1+/− hiPSC-neurons in a genotype-dependent manner, whereas mutant isoform (MT) expression decreased neuronal activity levels in control hiPSC-neurons15.”
From Phenotypic complexities of rare heterozygous neurexin-1 deletions (2025) · cites this paper as [15]
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“suggesting that the majority of isoforms were conserved between the two cell-types, as previously reported15.”
From Phenotypic complexities of rare heterozygous neurexin-1 deletions (2025) · cites this paper as [15]
In the citing paper
“Two cases sharing a ~115-kb deletion in the 5’-region of NRXN1 (5’-Del), affecting the alpha-transcript promoter, represent the LOF condition.”
From Phenotypic complexities of rare heterozygous neurexin-1 deletions (2025) · cites this paper as [15]
In the citing paper
“Two additional cases sharing a ~136-kb deletion in the 3’-region of NRXN1 (3’-Del), impacting two alternative splice sites (SS4, SS5) across three exons (21–23), robustly express unique MT isoforms from the affected allele and therefore represent the GOF condition15.”
From Phenotypic complexities of rare heterozygous neurexin-1 deletions (2025) · cites this paper as [15]
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The Phyre2 web portal for protein modeling, prediction and analysis
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Biological insights from 108 schizophrenia-associated genetic loci
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De novo mutations in schizophrenia implicate synaptic networks
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A polygenic burden of rare disruptive mutations in schizophrenia
Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., et al. (2014) · Nature · doi:10.1038/nature12975 · Cited by 1,385
Modelling schizophrenia using human induced pluripotent stem cells
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Self-citationNeuroligin Expressed in Nonneuronal Cells Triggers Presynaptic Development in Contacting Axons
Scheiffele, P., Fan, J., Choih, J., Fetter, R., & Serafini, T. (2000) · Cell · doi:10.1016/s0092-8674(00)80877-6 · Cited by 1,218
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap
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Cited by
Mechanisms Underlying Circuit Dysfunction in Neurodevelopmental Disorders
Exposito-Alonso, D., & Rico, B. (2022) · Annual Review of Genetics · doi:10.1146/annurev-genet-072820-023642 · Cited by 49
Weigel, B., Tegethoff, J. F., Grieder, S. D., Lim, B., Nagarajan, B., Liu, Y.-C., Truberg, J., Papageorgiou, D., Adrian-Segarra, J. M., Schmidt, L. K., et al. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-01959-7 · Cited by 31
Phenotypic complexities of rare heterozygous neurexin-1 deletions
Fernando, M. B., Fan, Y., Zhang, Y., Tokolyi, A., Murphy, A. N., Kammourh, S., Deans, P. J. M., Ghorbani, S., Onatzevitch, R., Pero, A., et al. (2025) · Nature · doi:10.1038/s41586-025-08864-9 · Cited by 30
Self-citationCanals, I., Quist, E., & Ahlenius, H. (2021) · Cellular Reprogramming · doi:10.1089/cell.2021.0045 · Cited by 11
Metadata
- Authors
- Flaherty, E., Zhu, S., Barretto, N., Cheng, E., Deans, P. J. M., Fernando, M. B., Schrode, N., Francoeur, N., Antoine, A., Alganem, K., Halpern, M., Deikus, G., Shah, H., Fitzgerald, M., Ladran, I., Gochman, P., Rapoport, J., Tsankova, N. M., McCullumsmith, R., Hoffman, G. E., Sebra, R., Fang, G., & Brennand, K. J.
- Venue
- Nature Genetics
- Published
- 2019-11-29
- Volume
- 51
- Issue
- 12
- Pages
- 1679-1690
- ISSN
- 1061-4036
- 1546-1718
- PMC
- PMC7451045
- Cited by
- 132
- References
- 26
- Language
- en
- Funders
- Brain and Behavior Research Foundation
- New York Stem Cell Foundation
- U.S. Department of Health & Human Services | National Institutes of Health (MH101454, MH106056, MH112285, MH107487)
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- Flaherty, E., Zhu, S., Barretto, N., Cheng, E., Deans, P. J. M., Fernando, M. B., Schrode, N., Francoeur, N., Antoine, A., Alganem, K., Halpern, M., Deikus, G., Shah, H., Fitzgerald, M., Ladran, I., Gochman, P., Rapoport, J., Tsankova, N. M., McCullumsmith, R., . . . Brennand, K. J. (2019). Neuronal impact of patient-specific aberrant NRXN1α splicing. Nature Genetics. https://doi.org/10.1038/s41588-019-0539-z
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